Yum, tasty mutations...

MutationTaster - study a chromosomal position

 MTQE documentation
NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 6 transcript(s)...
Querying Taster for transcript #1: ENST00000295550
Querying Taster for transcript #2: ENST00000472056
Querying Taster for transcript #3: ENST00000409809
Querying Taster for transcript #4: ENST00000347401
Querying Taster for transcript #5: ENST00000353578
Querying Taster for transcript #6: ENST00000346358
MT speed 0 s - this script 5.120202 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
COL6A3polymorphism_automatic0simple_aaeaffectedM2927Tsingle base exchangers6728818show file
COL6A3polymorphism_automatic1.99840144432528e-15simple_aaeaffectedM2320Tsingle base exchangers6728818show file
COL6A3polymorphism_automatic1.99840144432528e-15simple_aaeaffectedM2721Tsingle base exchangers6728818show file
COL6A3polymorphism_automatic1.99840144432528e-15simple_aaeaffectedM2726Tsingle base exchangers6728818show file
COL6A3polymorphism_automatic1.99840144432528e-15simple_aaeaffectedM2721Tsingle base exchangers6728818show file
COL6A3polymorphism_automatic1.99840144432528e-15simple_aaeaffectedM2727Tsingle base exchangers6728818show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 1 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:238244963A>GN/A show variant in all transcripts   IGV
HGNC symbol COL6A3
Ensembl transcript ID ENST00000295550
Genbank transcript ID NM_004369
UniProt peptide P12111
alteration type single base exchange
alteration region CDS
DNA changes c.8780T>C
cDNA.9233T>C
g.78056T>C
AA changes M2927T Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 2927
frameshift no
known variant Reference ID: rs6728818
databasehomozygous (G/G)heterozygousallele carriers
1000G107010482118
ExAC25150-175337617
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.8770
0.1560
(flanking)-1.4540
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased78053wt: 0.2851 / mu: 0.3345 (marginal change - not scored)wt: CACAAAGATGGCCAC
mu: CACAAAGACGGCCAC		 CAAA|gatg
Donor marginally increased78048wt: 0.8509 / mu: 0.8900 (marginal change - not scored)wt: GTGGCCACAAAGATG
mu: GTGGCCACAAAGACG		 GGCC|acaa
Donor marginally increased78051wt: 0.8907 / mu: 0.9485 (marginal change - not scored)wt: GCCACAAAGATGGCC
mu: GCCACAAAGACGGCC		 CACA|aaga
Donor gained780570.52mu: AAGACGGCCACTGTT GACG|gcca
distance from splice site 186
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      2927KPVAAKPVATKMATVRPPVAVKPA
mutated  not conserved    2927KPVAAKPVATKTATVRPPVAVKP
Ptroglodytes  not conserved  ENSPTRG00000013074  2927KPVAAKPVATKTATVRPPVAVRP
Mmulatta  not conserved  ENSMMUG00000014049  2719ATKTATVRPPVAVKP
Fcatus  no alignment  ENSFCAG00000012720  n/a
Mmusculus  not conserved  ENSMUSG00000048126  2413PAQPAAAQPMPAQPVLTKSAAVKPASANKPVAAKPVATNTATATARP
Ggallus  not conserved  ENSGALG00000003923  2926KTTTASTTAQTRATERP------
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000077139  3502NTHNVNGHVASTYKGIVPTK
Dmelanogaster  no homologue    
Celegans  no alignment  C18H7.1  n/a
Xtropicalis  no alignment  ENSXETG00000031229  n/a
protein features
start (aa)end (aa)featuredetails 
23763177REGIONNonhelical region.lost
29082983COMPBIASAla-rich.lost
29562956CONFLICTMissing (in Ref. 1; CAA36267).might get lost (downstream of altered splice site)
29883076DOMAINFibronectin type-III.might get lost (downstream of altered splice site)
29922992CONFLICTS -> L (in Ref. 1; CAA36267).might get lost (downstream of altered splice site)
30373037CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
31103113HELIXmight get lost (downstream of altered splice site)
31123112DISULFIDBy similarity.might get lost (downstream of altered splice site)
31123162DOMAINBPTI/Kunitz inhibitor.might get lost (downstream of altered splice site)
31203122STRANDmight get lost (downstream of altered splice site)
31213121DISULFIDBy similarity.might get lost (downstream of altered splice site)
31223123SITEReactive bond.might get lost (downstream of altered splice site)
31253131STRANDmight get lost (downstream of altered splice site)
31323135TURNmight get lost (downstream of altered splice site)
31363142STRANDmight get lost (downstream of altered splice site)
31373137DISULFIDBy similarity.might get lost (downstream of altered splice site)
31443146STRANDmight get lost (downstream of altered splice site)
31453145DISULFIDBy similarity.might get lost (downstream of altered splice site)
31523154STRANDmight get lost (downstream of altered splice site)
31553162HELIXmight get lost (downstream of altered splice site)
31583158DISULFIDBy similarity.might get lost (downstream of altered splice site)
31623162DISULFIDBy similarity.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 9534 / 9534
position (AA) of stopcodon in wt / mu AA sequence 3178 / 3178
position of stopcodon in wt / mu cDNA 9987 / 9987
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 454 / 454
chromosome 2
strand -1
last intron/exon boundary 9947
theoretical NMD boundary in CDS 9443
length of CDS 9534
coding sequence (CDS) position 8780
cDNA position
(for ins/del: last normal base / first normal base)		 9233
gDNA position
(for ins/del: last normal base / first normal base)		 78056
chromosomal position
(for ins/del: last normal base / first normal base)		 238244963
original gDNA sequence snippet CAAGCCTGTGGCCACAAAGATGGCCACTGTTAGACCCCCAG
altered gDNA sequence snippet CAAGCCTGTGGCCACAAAGACGGCCACTGTTAGACCCCCAG
original cDNA sequence snippet CAAGCCTGTGGCCACAAAGATGGCCACTGTTAGACCCCCAG
altered cDNA sequence snippet CAAGCCTGTGGCCACAAAGACGGCCACTGTTAGACCCCCAG
wildtype AA sequence MRKHRHLPLV AVFCLFLSGF PTTHAQQQQA DVKNGAAADI IFLVDSSWTI GEEHFQLVRE
FLYDVVKSLA VGENDFHFAL VQFNGNPHTE FLLNTYRTKQ EVLSHISNMS YIGGTNQTGK
GLEYIMQSHL TKAAGSRAGD GVPQVIVVLT DGHSKDGLAL PSAELKSADV NVFAIGVEDA
DEGALKEIAS EPLNMHMFNL ENFTSLHDIV GNLVSCVHSS VSPERAGDTE TLKDITAQDS
ADIIFLIDGS NNTGSVNFAV ILDFLVNLLE KLPIGTQQIR VGVVQFSDEP RTMFSLDTYS
TKAQVLGAVK ALGFAGGELA NIGLALDFVV ENHFTRAGGS RVEEGVPQVL VLISAGPSSD
EIRYGVVALK QASVFSFGLG AQAASRAELQ HIATDDNLVF TVPEFRSFGD LQEKLLPYIV
GVAQRHIVLK PPTIVTQVIE VNKRDIVFLV DGSSALGLAN FNAIRDFIAK VIQRLEIGQD
LIQVAVAQYA DTVRPEFYFN THPTKREVIT AVRKMKPLDG SALYTGSALD FVRNNLFTSS
AGYRAAEGIP KLLVLITGGK SLDEISQPAQ ELKRSSIMAF AIGNKGADQA ELEEIAFDSS
LVFIPAEFRA APLQGMLPGL LAPLRTLSGT PEVHSNKRDI IFLLDGSANV GKTNFPYVRD
FVMNLVNSLD IGNDNIRVGL VQFSDTPVTE FSLNTYQTKS DILGHLRQLQ LQGGSGLNTG
SALSYVYANH FTEAGGSRIR EHVPQLLLLL TAGQSEDSYL QAANALTRAG ILTFCVGASQ
ANKAELEQIA FNPSLVYLMD DFSSLPALPQ QLIQPLTTYV SGGVEEVPLA QPESKRDILF
LFDGSANLVG QFPVVRDFLY KIIDELNVKP EGTRIAVAQY SDDVKVESRF DEHQSKPEIL
NLVKRMKIKT GKALNLGYAL DYAQRYIFVK SAGSRIEDGV LQFLVLLVAG RSSDRVDGPA
SNLKQSGVVP FIFQAKNADP AELEQIVLSP AFILAAESLP KIGDLHPQIV NLLKSVHNGA
PAPVSGEKDV VFLLDGSEGV RSGFPLLKEF VQRVVESLDV GQDRVRVAVV QYSDRTRPEF
YLNSYMNKQD VVNAVRQLTL LGGPTPNTGA ALEFVLRNIL VSSAGSRITE GVPQLLIVLT
ADRSGDDVRN PSVVVKRGGA VPIGIGIGNA DITEMQTISF IPDFAVAIPT FRQLGTVQQV
ISERVTQLTR EELSRLQPVL QPLPSPGVGG KRDVVFLIDG SQSAGPEFQY VRTLIERLVD
YLDVGFDTTR VAVIQFSDDP KVEFLLNAHS SKDEVQNAVQ RLRPKGGRQI NVGNALEYVS
RNIFKRPLGS RIEEGVPQFL VLISSGKSDD EVDDPAVELK QFGVAPFTIA RNADQEELVK
ISLSPEYVFS VSTFRELPSL EQKLLTPITT LTSEQIQKLL ASTRYPPPAV ESDAADIVFL
IDSSEGVRPD GFAHIRDFVS RIVRRLNIGP SKVRVGVVQF SNDVFPEFYL KTYRSQAPVL
DAIRRLRLRG GSPLNTGKAL EFVARNLFVK SAGSRIEDGV PQHLVLVLGG KSQDDVSRFA
QVIRSSGIVS LGVGDRNIDR TELQTITNDP RLVFTVREFR ELPNIEERIM NSFGPSAATP
APPGVDTPPP SRPEKKKADI VFLLDGSINF RRDSFQEVLR FVSEIVDTVY EDGDSIQVGL
VQYNSDPTDE FFLKDFSTKR QIIDAINKVV YKGGRHANTK VGLEHLRVNH FVPEAGSRLD
QRVPQIAFVI TGGKSVEDAQ DVSLALTQRG VKVFAVGVRN IDSEEVGKIA SNSATAFRVG
NVQELSELSE QVLETLHDAM HETLCPGVTD AAKACNLDVI LGFDGSRDQN VFVAQKGFES
KVDAILNRIS QMHRVSCSGG RSPTVRVSVV ANTPSGPVEA FDFDEYQPEM LEKFRNMRSQ
HPYVLTEDTL KVYLNKFRQS SPDSVKVVIH FTDGADGDLA DLHRASENLR QEGVRALILV
GLERVVNLER LMHLEFGRGF MYDRPLRLNL LDLDYELAEQ LDNIAEKACC GVPCKCSGQR
GDRGPIGSIG PKGIPGEDGY RGYPGDEGGP GERGPPGVNG TQGFQGCPGQ RGVKGSRGFP
GEKGEVGEIG LDGLDGEDGD KGLPGSSGEK GNPGRRGDKG PRGEKGERGD VGIRGDPGNP
GQDSQERGPK GETGDLGPMG VPGRDGVPGG PGETGKNGGF GRRGPPGAKG NKGGPGQPGF
EGEQGTRGAQ GPAGPAGPPG LIGEQGISGP RGSGGAAGAP GERGRTGPLG RKGEPGEPGP
KGGIGNRGPR GETGDDGRDG VGSEGRRGKK GERGFPGYPG PKGNPGEPGL NGTTGPKGIR
GRRGNSGPPG IVGQKGDPGY PGPAGPKGNR GDSIDQCALI QSIKDKCPCC YGPLECPVFP
TELAFALDTS EGVNQDTFGR MRDVVLSIVN DLTIAESNCP RGARVAVVTY NNEVTTEIRF
ADSKRKSVLL DKIKNLQVAL TSKQQSLETA MSFVARNTFK RVRNGFLMRK VAVFFSNTPT
RASPQLREAV LKLSDAGITP LFLTRQEDRQ LINALQINNT AVGHALVLPA GRDLTDFLEN
VLTCHVCLDI CNIDPSCGFG SWRPSFRDRR AAGSDVDIDM AFILDSAETT TLFQFNEMKK
YIAYLVRQLD MSPDPKASQH FARVAVVQHA PSESVDNASM PPVKVEFSLT DYGSKEKLVD
FLSRGMTQLQ GTRALGSAIE YTIENVFESA PNPRDLKIVV LMLTGEVPEQ QLEEAQRVIL
QAKCKGYFFV VLGIGRKVNI KEVYTFASEP NDVFFKLVDK STELNEEPLM RFGRLLPSFV
SSENAFYLSP DIRKQCDWFQ GDQPTKNLVK FGHKQVNVPN NVTSSPTSNP VTTTKPVTTT
KPVTTTTKPV TTTTKPVTII NQPSVKPAAA KPAPAKPVAA KPVATKMATV RPPVAVKPAT
AAKPVAAKPA AVRPPAAAAA KPVATKPEVP RPQAAKPAAT KPATTKPMVK MSREVQVFEI
TENSAKLHWE RAEPPGPYFY DLTVTSAHDQ SLVLKQNLTV TDRVIGGLLA GQTYHVAVVC
YLRSQVRATY HGSFSTKKSQ PPPPQPARSA SSSTINLMVS TEPLALTETD ICKLPKDEGT
CRDFILKWYY DPNTKSCARF WYGGCGGNEN KFGSQKECEK VCAPVLAKPG VISVMGT*
mutated AA sequence MRKHRHLPLV AVFCLFLSGF PTTHAQQQQA DVKNGAAADI IFLVDSSWTI GEEHFQLVRE
FLYDVVKSLA VGENDFHFAL VQFNGNPHTE FLLNTYRTKQ EVLSHISNMS YIGGTNQTGK
GLEYIMQSHL TKAAGSRAGD GVPQVIVVLT DGHSKDGLAL PSAELKSADV NVFAIGVEDA
DEGALKEIAS EPLNMHMFNL ENFTSLHDIV GNLVSCVHSS VSPERAGDTE TLKDITAQDS
ADIIFLIDGS NNTGSVNFAV ILDFLVNLLE KLPIGTQQIR VGVVQFSDEP RTMFSLDTYS
TKAQVLGAVK ALGFAGGELA NIGLALDFVV ENHFTRAGGS RVEEGVPQVL VLISAGPSSD
EIRYGVVALK QASVFSFGLG AQAASRAELQ HIATDDNLVF TVPEFRSFGD LQEKLLPYIV
GVAQRHIVLK PPTIVTQVIE VNKRDIVFLV DGSSALGLAN FNAIRDFIAK VIQRLEIGQD
LIQVAVAQYA DTVRPEFYFN THPTKREVIT AVRKMKPLDG SALYTGSALD FVRNNLFTSS
AGYRAAEGIP KLLVLITGGK SLDEISQPAQ ELKRSSIMAF AIGNKGADQA ELEEIAFDSS
LVFIPAEFRA APLQGMLPGL LAPLRTLSGT PEVHSNKRDI IFLLDGSANV GKTNFPYVRD
FVMNLVNSLD IGNDNIRVGL VQFSDTPVTE FSLNTYQTKS DILGHLRQLQ LQGGSGLNTG
SALSYVYANH FTEAGGSRIR EHVPQLLLLL TAGQSEDSYL QAANALTRAG ILTFCVGASQ
ANKAELEQIA FNPSLVYLMD DFSSLPALPQ QLIQPLTTYV SGGVEEVPLA QPESKRDILF
LFDGSANLVG QFPVVRDFLY KIIDELNVKP EGTRIAVAQY SDDVKVESRF DEHQSKPEIL
NLVKRMKIKT GKALNLGYAL DYAQRYIFVK SAGSRIEDGV LQFLVLLVAG RSSDRVDGPA
SNLKQSGVVP FIFQAKNADP AELEQIVLSP AFILAAESLP KIGDLHPQIV NLLKSVHNGA
PAPVSGEKDV VFLLDGSEGV RSGFPLLKEF VQRVVESLDV GQDRVRVAVV QYSDRTRPEF
YLNSYMNKQD VVNAVRQLTL LGGPTPNTGA ALEFVLRNIL VSSAGSRITE GVPQLLIVLT
ADRSGDDVRN PSVVVKRGGA VPIGIGIGNA DITEMQTISF IPDFAVAIPT FRQLGTVQQV
ISERVTQLTR EELSRLQPVL QPLPSPGVGG KRDVVFLIDG SQSAGPEFQY VRTLIERLVD
YLDVGFDTTR VAVIQFSDDP KVEFLLNAHS SKDEVQNAVQ RLRPKGGRQI NVGNALEYVS
RNIFKRPLGS RIEEGVPQFL VLISSGKSDD EVDDPAVELK QFGVAPFTIA RNADQEELVK
ISLSPEYVFS VSTFRELPSL EQKLLTPITT LTSEQIQKLL ASTRYPPPAV ESDAADIVFL
IDSSEGVRPD GFAHIRDFVS RIVRRLNIGP SKVRVGVVQF SNDVFPEFYL KTYRSQAPVL
DAIRRLRLRG GSPLNTGKAL EFVARNLFVK SAGSRIEDGV PQHLVLVLGG KSQDDVSRFA
QVIRSSGIVS LGVGDRNIDR TELQTITNDP RLVFTVREFR ELPNIEERIM NSFGPSAATP
APPGVDTPPP SRPEKKKADI VFLLDGSINF RRDSFQEVLR FVSEIVDTVY EDGDSIQVGL
VQYNSDPTDE FFLKDFSTKR QIIDAINKVV YKGGRHANTK VGLEHLRVNH FVPEAGSRLD
QRVPQIAFVI TGGKSVEDAQ DVSLALTQRG VKVFAVGVRN IDSEEVGKIA SNSATAFRVG
NVQELSELSE QVLETLHDAM HETLCPGVTD AAKACNLDVI LGFDGSRDQN VFVAQKGFES
KVDAILNRIS QMHRVSCSGG RSPTVRVSVV ANTPSGPVEA FDFDEYQPEM LEKFRNMRSQ
HPYVLTEDTL KVYLNKFRQS SPDSVKVVIH FTDGADGDLA DLHRASENLR QEGVRALILV
GLERVVNLER LMHLEFGRGF MYDRPLRLNL LDLDYELAEQ LDNIAEKACC GVPCKCSGQR
GDRGPIGSIG PKGIPGEDGY RGYPGDEGGP GERGPPGVNG TQGFQGCPGQ RGVKGSRGFP
GEKGEVGEIG LDGLDGEDGD KGLPGSSGEK GNPGRRGDKG PRGEKGERGD VGIRGDPGNP
GQDSQERGPK GETGDLGPMG VPGRDGVPGG PGETGKNGGF GRRGPPGAKG NKGGPGQPGF
EGEQGTRGAQ GPAGPAGPPG LIGEQGISGP RGSGGAAGAP GERGRTGPLG RKGEPGEPGP
KGGIGNRGPR GETGDDGRDG VGSEGRRGKK GERGFPGYPG PKGNPGEPGL NGTTGPKGIR
GRRGNSGPPG IVGQKGDPGY PGPAGPKGNR GDSIDQCALI QSIKDKCPCC YGPLECPVFP
TELAFALDTS EGVNQDTFGR MRDVVLSIVN DLTIAESNCP RGARVAVVTY NNEVTTEIRF
ADSKRKSVLL DKIKNLQVAL TSKQQSLETA MSFVARNTFK RVRNGFLMRK VAVFFSNTPT
RASPQLREAV LKLSDAGITP LFLTRQEDRQ LINALQINNT AVGHALVLPA GRDLTDFLEN
VLTCHVCLDI CNIDPSCGFG SWRPSFRDRR AAGSDVDIDM AFILDSAETT TLFQFNEMKK
YIAYLVRQLD MSPDPKASQH FARVAVVQHA PSESVDNASM PPVKVEFSLT DYGSKEKLVD
FLSRGMTQLQ GTRALGSAIE YTIENVFESA PNPRDLKIVV LMLTGEVPEQ QLEEAQRVIL
QAKCKGYFFV VLGIGRKVNI KEVYTFASEP NDVFFKLVDK STELNEEPLM RFGRLLPSFV
SSENAFYLSP DIRKQCDWFQ GDQPTKNLVK FGHKQVNVPN NVTSSPTSNP VTTTKPVTTT
KPVTTTTKPV TTTTKPVTII NQPSVKPAAA KPAPAKPVAA KPVATKTATV RPPVAVKPAT
AAKPVAAKPA AVRPPAAAAA KPVATKPEVP RPQAAKPAAT KPATTKPMVK MSREVQVFEI
TENSAKLHWE RAEPPGPYFY DLTVTSAHDQ SLVLKQNLTV TDRVIGGLLA GQTYHVAVVC
YLRSQVRATY HGSFSTKKSQ PPPPQPARSA SSSTINLMVS TEPLALTETD ICKLPKDEGT
CRDFILKWYY DPNTKSCARF WYGGCGGNEN KFGSQKECEK VCAPVLAKPG VISVMGT*
speed 0.79 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999998 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:238244963A>GN/A show variant in all transcripts   IGV
HGNC symbol COL6A3
Ensembl transcript ID ENST00000472056
Genbank transcript ID NM_057166
UniProt peptide P12111
alteration type single base exchange
alteration region CDS
DNA changes c.6959T>C
cDNA.7185T>C
g.78056T>C
AA changes M2320T Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 2320
frameshift no
known variant Reference ID: rs6728818
databasehomozygous (G/G)heterozygousallele carriers
1000G107010482118
ExAC25150-175337617
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.8770
0.1560
(flanking)-1.4540
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased78053wt: 0.2851 / mu: 0.3345 (marginal change - not scored)wt: CACAAAGATGGCCAC
mu: CACAAAGACGGCCAC		 CAAA|gatg
Donor marginally increased78048wt: 0.8509 / mu: 0.8900 (marginal change - not scored)wt: GTGGCCACAAAGATG
mu: GTGGCCACAAAGACG		 GGCC|acaa
Donor marginally increased78051wt: 0.8907 / mu: 0.9485 (marginal change - not scored)wt: GCCACAAAGATGGCC
mu: GCCACAAAGACGGCC		 CACA|aaga
Donor gained780570.52mu: AAGACGGCCACTGTT GACG|gcca
distance from splice site 186
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      2320KPVAAKPVATKMATVRPPVAVKPA
mutated  not conserved    2320KPVAAKPVATKTATVRPPVAVKP
Ptroglodytes  not conserved  ENSPTRG00000013074  2927KPVAAKPVATKTATVRPPVAVRP
Mmulatta  not conserved  ENSMMUG00000014049  2714KPVAAKPVATKTATVRPPVAVKP
Fcatus  no alignment  ENSFCAG00000012720  n/a
Mmusculus  not conserved  ENSMUSG00000048126  2408AKPAVPAQPAAAQPMPAQPVLTKSAAVKPASANKPVAAKPVATNTATATARP
Ggallus  not conserved  ENSGALG00000003923  2906KTTTASTTAQTRATERP------
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000077139  3502VVVNTHNVNGHVASTYKGIVPTK
Dmelanogaster  no homologue    
Celegans  no alignment  C18H7.1  n/a
Xtropicalis  no alignment  ENSXETG00000031229  n/a
protein features
start (aa)end (aa)featuredetails 
20392375REGIONTriple-helical region.lost
23142373DOMAINCollagen-like 5.lost
23222322MOD_RES5-hydroxylysine.might get lost (downstream of altered splice site)
23222322CARBOHYDO-linked (Gal...).might get lost (downstream of altered splice site)
23312331CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
23372337MOD_RES5-hydroxylysine.might get lost (downstream of altered splice site)
23372337CARBOHYDO-linked (Gal...).might get lost (downstream of altered splice site)
23572357CONFLICTD -> R (in Ref. 1; CAA36267 and 6; M20778).might get lost (downstream of altered splice site)
23672367CONFLICTK -> R (in Ref. 1; CAA36267 and 6; M20778).might get lost (downstream of altered splice site)
23702372MOTIFCell attachment site.might get lost (downstream of altered splice site)
23763177REGIONNonhelical region.might get lost (downstream of altered splice site)
24022581DOMAINVWFA 11.might get lost (downstream of altered splice site)
24412441CONFLICTR -> T (in Ref. 1; CAA36267).might get lost (downstream of altered splice site)
25582558CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
26192815DOMAINVWFA 12.might get lost (downstream of altered splice site)
26772677CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
28612861CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
28632898COMPBIASThr-rich.might get lost (downstream of altered splice site)
29082983COMPBIASAla-rich.might get lost (downstream of altered splice site)
29562956CONFLICTMissing (in Ref. 1; CAA36267).might get lost (downstream of altered splice site)
29883076DOMAINFibronectin type-III.might get lost (downstream of altered splice site)
29922992CONFLICTS -> L (in Ref. 1; CAA36267).might get lost (downstream of altered splice site)
30373037CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
31103113HELIXmight get lost (downstream of altered splice site)
31123112DISULFIDBy similarity.might get lost (downstream of altered splice site)
31123162DOMAINBPTI/Kunitz inhibitor.might get lost (downstream of altered splice site)
31203122STRANDmight get lost (downstream of altered splice site)
31213121DISULFIDBy similarity.might get lost (downstream of altered splice site)
31223123SITEReactive bond.might get lost (downstream of altered splice site)
31253131STRANDmight get lost (downstream of altered splice site)
31323135TURNmight get lost (downstream of altered splice site)
31363142STRANDmight get lost (downstream of altered splice site)
31373137DISULFIDBy similarity.might get lost (downstream of altered splice site)
31443146STRANDmight get lost (downstream of altered splice site)
31453145DISULFIDBy similarity.might get lost (downstream of altered splice site)
31523154STRANDmight get lost (downstream of altered splice site)
31553162HELIXmight get lost (downstream of altered splice site)
31583158DISULFIDBy similarity.might get lost (downstream of altered splice site)
31623162DISULFIDBy similarity.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 7713 / 7713
position (AA) of stopcodon in wt / mu AA sequence 2571 / 2571
position of stopcodon in wt / mu cDNA 7939 / 7939
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 227 / 227
chromosome 2
strand -1
last intron/exon boundary 7899
theoretical NMD boundary in CDS 7622
length of CDS 7713
coding sequence (CDS) position 6959
cDNA position
(for ins/del: last normal base / first normal base)		 7185
gDNA position
(for ins/del: last normal base / first normal base)		 78056
chromosomal position
(for ins/del: last normal base / first normal base)		 238244963
original gDNA sequence snippet CAAGCCTGTGGCCACAAAGATGGCCACTGTTAGACCCCCAG
altered gDNA sequence snippet CAAGCCTGTGGCCACAAAGACGGCCACTGTTAGACCCCCAG
original cDNA sequence snippet CAAGCCTGTGGCCACAAAGATGGCCACTGTTAGACCCCCAG
altered cDNA sequence snippet CAAGCCTGTGGCCACAAAGACGGCCACTGTTAGACCCCCAG
wildtype AA sequence MRKHRHLPLV AVFCLFLSGF PTTHAQQQQA VIEVNKRDIV FLVDGSSALG LANFNAIRDF
IAKVIQRLEI GQDLIQVAVA QYADTVRPEF YFNTHPTKRE VITAVRKMKP LDGSALYTGS
ALDFVRNNLF TSSAGYRAAE GIPKLLVLIT GGKSLDEISQ PAQELKRSSI MAFAIGNKGA
DQAELEEIAF DSSLVFIPAE FRAAPLQGML PGLLAPLRTL SGTPEESKRD ILFLFDGSAN
LVGQFPVVRD FLYKIIDELN VKPEGTRIAV AQYSDDVKVE SRFDEHQSKP EILNLVKRMK
IKTGKALNLG YALDYAQRYI FVKSAGSRIE DGVLQFLVLL VAGRSSDRVD GPASNLKQSG
VVPFIFQAKN ADPAELEQIV LSPAFILAAE SLPKIGDLHP QIVNLLKSVH NGAPAPVSGE
KDVVFLLDGS EGVRSGFPLL KEFVQRVVES LDVGQDRVRV AVVQYSDRTR PEFYLNSYMN
KQDVVNAVRQ LTLLGGPTPN TGAALEFVLR NILVSSAGSR ITEGVPQLLI VLTADRSGDD
VRNPSVVVKR GGAVPIGIGI GNADITEMQT ISFIPDFAVA IPTFRQLGTV QQVISERVTQ
LTREELSRLQ PVLQPLPSPG VGGKRDVVFL IDGSQSAGPE FQYVRTLIER LVDYLDVGFD
TTRVAVIQFS DDPKVEFLLN AHSSKDEVQN AVQRLRPKGG RQINVGNALE YVSRNIFKRP
LGSRIEEGVP QFLVLISSGK SDDEVDDPAV ELKQFGVAPF TIARNADQEE LVKISLSPEY
VFSVSTFREL PSLEQKLLTP ITTLTSEQIQ KLLASTRYPP PAVESDAADI VFLIDSSEGV
RPDGFAHIRD FVSRIVRRLN IGPSKVRVGV VQFSNDVFPE FYLKTYRSQA PVLDAIRRLR
LRGGSPLNTG KALEFVARNL FVKSAGSRIE DGVPQHLVLV LGGKSQDDVS RFAQVIRSSG
IVSLGVGDRN IDRTELQTIT NDPRLVFTVR EFRELPNIEE RIMNSFGPSA ATPAPPGVDT
PPPSRPEKKK ADIVFLLDGS INFRRDSFQE VLRFVSEIVD TVYEDGDSIQ VGLVQYNSDP
TDEFFLKDFS TKRQIIDAIN KVVYKGGRHA NTKVGLEHLR VNHFVPEAGS RLDQRVPQIA
FVITGGKSVE DAQDVSLALT QRGVKVFAVG VRNIDSEEVG KIASNSATAF RVGNVQELSE
LSEQVLETLH DAMHETLCPG VTDAAKACNL DVILGFDGSR DQNVFVAQKG FESKVDAILN
RISQMHRVSC SGGRSPTVRV SVVANTPSGP VEAFDFDEYQ PEMLEKFRNM RSQHPYVLTE
DTLKVYLNKF RQSSPDSVKV VIHFTDGADG DLADLHRASE NLRQEGVRAL ILVGLERVVN
LERLMHLEFG RGFMYDRPLR LNLLDLDYEL AEQLDNIAEK ACCGVPCKCS GQRGDRGPIG
SIGPKGIPGE DGYRGYPGDE GGPGERGPPG VNGTQGFQGC PGQRGVKGSR GFPGEKGEVG
EIGLDGLDGE DGDKGLPGSS GEKGNPGRRG DKGPRGEKGE RGDVGIRGDP GNPGQDSQER
GPKGETGDLG PMGVPGRDGV PGGPGETGKN GGFGRRGPPG AKGNKGGPGQ PGFEGEQGTR
GAQGPAGPAG PPGLIGEQGI SGPRGSGGAA GAPGERGRTG PLGRKGEPGE PGPKGGIGNR
GPRGETGDDG RDGVGSEGRR GKKGERGFPG YPGPKGNPGE PGLNGTTGPK GIRGRRGNSG
PPGIVGQKGD PGYPGPAGPK GNRGDSIDQC ALIQSIKDKC PCCYGPLECP VFPTELAFAL
DTSEGVNQDT FGRMRDVVLS IVNDLTIAES NCPRGARVAV VTYNNEVTTE IRFADSKRKS
VLLDKIKNLQ VALTSKQQSL ETAMSFVARN TFKRVRNGFL MRKVAVFFSN TPTRASPQLR
EAVLKLSDAG ITPLFLTRQE DRQLINALQI NNTAVGHALV LPAGRDLTDF LENVLTCHVC
LDICNIDPSC GFGSWRPSFR DRRAAGSDVD IDMAFILDSA ETTTLFQFNE MKKYIAYLVR
QLDMSPDPKA SQHFARVAVV QHAPSESVDN ASMPPVKVEF SLTDYGSKEK LVDFLSRGMT
QLQGTRALGS AIEYTIENVF ESAPNPRDLK IVVLMLTGEV PEQQLEEAQR VILQAKCKGY
FFVVLGIGRK VNIKEVYTFA SEPNDVFFKL VDKSTELNEE PLMRFGRLLP SFVSSENAFY
LSPDIRKQCD WFQGDQPTKN LVKFGHKQVN VPNNVTSSPT SNPVTTTKPV TTTKPVTTTT
KPVTTTTKPV TIINQPSVKP AAAKPAPAKP VAAKPVATKM ATVRPPVAVK PATAAKPVAA
KPAAVRPPAA AAAKPVATKP EVPRPQAAKP AATKPATTKP MVKMSREVQV FEITENSAKL
HWERAEPPGP YFYDLTVTSA HDQSLVLKQN LTVTDRVIGG LLAGQTYHVA VVCYLRSQVR
ATYHGSFSTK KSQPPPPQPA RSASSSTINL MVSTEPLALT ETDICKLPKD EGTCRDFILK
WYYDPNTKSC ARFWYGGCGG NENKFGSQKE CEKVCAPVLA KPGVISVMGT *
mutated AA sequence MRKHRHLPLV AVFCLFLSGF PTTHAQQQQA VIEVNKRDIV FLVDGSSALG LANFNAIRDF
IAKVIQRLEI GQDLIQVAVA QYADTVRPEF YFNTHPTKRE VITAVRKMKP LDGSALYTGS
ALDFVRNNLF TSSAGYRAAE GIPKLLVLIT GGKSLDEISQ PAQELKRSSI MAFAIGNKGA
DQAELEEIAF DSSLVFIPAE FRAAPLQGML PGLLAPLRTL SGTPEESKRD ILFLFDGSAN
LVGQFPVVRD FLYKIIDELN VKPEGTRIAV AQYSDDVKVE SRFDEHQSKP EILNLVKRMK
IKTGKALNLG YALDYAQRYI FVKSAGSRIE DGVLQFLVLL VAGRSSDRVD GPASNLKQSG
VVPFIFQAKN ADPAELEQIV LSPAFILAAE SLPKIGDLHP QIVNLLKSVH NGAPAPVSGE
KDVVFLLDGS EGVRSGFPLL KEFVQRVVES LDVGQDRVRV AVVQYSDRTR PEFYLNSYMN
KQDVVNAVRQ LTLLGGPTPN TGAALEFVLR NILVSSAGSR ITEGVPQLLI VLTADRSGDD
VRNPSVVVKR GGAVPIGIGI GNADITEMQT ISFIPDFAVA IPTFRQLGTV QQVISERVTQ
LTREELSRLQ PVLQPLPSPG VGGKRDVVFL IDGSQSAGPE FQYVRTLIER LVDYLDVGFD
TTRVAVIQFS DDPKVEFLLN AHSSKDEVQN AVQRLRPKGG RQINVGNALE YVSRNIFKRP
LGSRIEEGVP QFLVLISSGK SDDEVDDPAV ELKQFGVAPF TIARNADQEE LVKISLSPEY
VFSVSTFREL PSLEQKLLTP ITTLTSEQIQ KLLASTRYPP PAVESDAADI VFLIDSSEGV
RPDGFAHIRD FVSRIVRRLN IGPSKVRVGV VQFSNDVFPE FYLKTYRSQA PVLDAIRRLR
LRGGSPLNTG KALEFVARNL FVKSAGSRIE DGVPQHLVLV LGGKSQDDVS RFAQVIRSSG
IVSLGVGDRN IDRTELQTIT NDPRLVFTVR EFRELPNIEE RIMNSFGPSA ATPAPPGVDT
PPPSRPEKKK ADIVFLLDGS INFRRDSFQE VLRFVSEIVD TVYEDGDSIQ VGLVQYNSDP
TDEFFLKDFS TKRQIIDAIN KVVYKGGRHA NTKVGLEHLR VNHFVPEAGS RLDQRVPQIA
FVITGGKSVE DAQDVSLALT QRGVKVFAVG VRNIDSEEVG KIASNSATAF RVGNVQELSE
LSEQVLETLH DAMHETLCPG VTDAAKACNL DVILGFDGSR DQNVFVAQKG FESKVDAILN
RISQMHRVSC SGGRSPTVRV SVVANTPSGP VEAFDFDEYQ PEMLEKFRNM RSQHPYVLTE
DTLKVYLNKF RQSSPDSVKV VIHFTDGADG DLADLHRASE NLRQEGVRAL ILVGLERVVN
LERLMHLEFG RGFMYDRPLR LNLLDLDYEL AEQLDNIAEK ACCGVPCKCS GQRGDRGPIG
SIGPKGIPGE DGYRGYPGDE GGPGERGPPG VNGTQGFQGC PGQRGVKGSR GFPGEKGEVG
EIGLDGLDGE DGDKGLPGSS GEKGNPGRRG DKGPRGEKGE RGDVGIRGDP GNPGQDSQER
GPKGETGDLG PMGVPGRDGV PGGPGETGKN GGFGRRGPPG AKGNKGGPGQ PGFEGEQGTR
GAQGPAGPAG PPGLIGEQGI SGPRGSGGAA GAPGERGRTG PLGRKGEPGE PGPKGGIGNR
GPRGETGDDG RDGVGSEGRR GKKGERGFPG YPGPKGNPGE PGLNGTTGPK GIRGRRGNSG
PPGIVGQKGD PGYPGPAGPK GNRGDSIDQC ALIQSIKDKC PCCYGPLECP VFPTELAFAL
DTSEGVNQDT FGRMRDVVLS IVNDLTIAES NCPRGARVAV VTYNNEVTTE IRFADSKRKS
VLLDKIKNLQ VALTSKQQSL ETAMSFVARN TFKRVRNGFL MRKVAVFFSN TPTRASPQLR
EAVLKLSDAG ITPLFLTRQE DRQLINALQI NNTAVGHALV LPAGRDLTDF LENVLTCHVC
LDICNIDPSC GFGSWRPSFR DRRAAGSDVD IDMAFILDSA ETTTLFQFNE MKKYIAYLVR
QLDMSPDPKA SQHFARVAVV QHAPSESVDN ASMPPVKVEF SLTDYGSKEK LVDFLSRGMT
QLQGTRALGS AIEYTIENVF ESAPNPRDLK IVVLMLTGEV PEQQLEEAQR VILQAKCKGY
FFVVLGIGRK VNIKEVYTFA SEPNDVFFKL VDKSTELNEE PLMRFGRLLP SFVSSENAFY
LSPDIRKQCD WFQGDQPTKN LVKFGHKQVN VPNNVTSSPT SNPVTTTKPV TTTKPVTTTT
KPVTTTTKPV TIINQPSVKP AAAKPAPAKP VAAKPVATKT ATVRPPVAVK PATAAKPVAA
KPAAVRPPAA AAAKPVATKP EVPRPQAAKP AATKPATTKP MVKMSREVQV FEITENSAKL
HWERAEPPGP YFYDLTVTSA HDQSLVLKQN LTVTDRVIGG LLAGQTYHVA VVCYLRSQVR
ATYHGSFSTK KSQPPPPQPA RSASSSTINL MVSTEPLALT ETDICKLPKD EGTCRDFILK
WYYDPNTKSC ARFWYGGCGG NENKFGSQKE CEKVCAPVLA KPGVISVMGT *
speed 0.92 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999998 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:238244963A>GN/A show variant in all transcripts   IGV
HGNC symbol COL6A3
Ensembl transcript ID ENST00000409809
Genbank transcript ID N/A
UniProt peptide P12111
alteration type single base exchange
alteration region CDS
DNA changes c.8162T>C
cDNA.8162T>C
g.78056T>C
AA changes M2721T Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 2721
frameshift no
known variant Reference ID: rs6728818
databasehomozygous (G/G)heterozygousallele carriers
1000G107010482118
ExAC25150-175337617
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.8770
0.1560
(flanking)-1.4540
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased78053wt: 0.2851 / mu: 0.3345 (marginal change - not scored)wt: CACAAAGATGGCCAC
mu: CACAAAGACGGCCAC		 CAAA|gatg
Donor marginally increased78048wt: 0.8509 / mu: 0.8900 (marginal change - not scored)wt: GTGGCCACAAAGATG
mu: GTGGCCACAAAGACG		 GGCC|acaa
Donor marginally increased78051wt: 0.8907 / mu: 0.9485 (marginal change - not scored)wt: GCCACAAAGATGGCC
mu: GCCACAAAGACGGCC		 CACA|aaga
Donor gained780570.52mu: AAGACGGCCACTGTT GACG|gcca
distance from splice site 186
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      2721KPVAAKPVATKMATVRPPVAVKPA
mutated  not conserved    2721KPVAAKPVATKTATVRPPVAVKP
Ptroglodytes  not conserved  ENSPTRG00000013074  2927KPVAAKPVATKTATVRPPVAVRP
Mmulatta  not conserved  ENSMMUG00000014049  2714KPVAAKPVATKTATVRPPVAVKP
Fcatus  no alignment  ENSFCAG00000012720  n/a
Mmusculus  not conserved  ENSMUSG00000048126  2413PAQPAAAQPMPAQPVLTKSAAVKPASANKPVAAKPVATNTATATARP
Ggallus  not conserved  ENSGALG00000003923  2906QTRATERP------
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000077139  3502GHVASTYKGIVPTK
Dmelanogaster  no homologue    
Celegans  no alignment  C18H7.1  n/a
Xtropicalis  no alignment  ENSXETG00000031229  n/a
protein features
start (aa)end (aa)featuredetails 
23763177REGIONNonhelical region.lost
26192815DOMAINVWFA 12.lost
28612861CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
28632898COMPBIASThr-rich.might get lost (downstream of altered splice site)
29082983COMPBIASAla-rich.might get lost (downstream of altered splice site)
29562956CONFLICTMissing (in Ref. 1; CAA36267).might get lost (downstream of altered splice site)
29883076DOMAINFibronectin type-III.might get lost (downstream of altered splice site)
29922992CONFLICTS -> L (in Ref. 1; CAA36267).might get lost (downstream of altered splice site)
30373037CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
31103113HELIXmight get lost (downstream of altered splice site)
31123112DISULFIDBy similarity.might get lost (downstream of altered splice site)
31123162DOMAINBPTI/Kunitz inhibitor.might get lost (downstream of altered splice site)
31203122STRANDmight get lost (downstream of altered splice site)
31213121DISULFIDBy similarity.might get lost (downstream of altered splice site)
31223123SITEReactive bond.might get lost (downstream of altered splice site)
31253131STRANDmight get lost (downstream of altered splice site)
31323135TURNmight get lost (downstream of altered splice site)
31363142STRANDmight get lost (downstream of altered splice site)
31373137DISULFIDBy similarity.might get lost (downstream of altered splice site)
31443146STRANDmight get lost (downstream of altered splice site)
31453145DISULFIDBy similarity.might get lost (downstream of altered splice site)
31523154STRANDmight get lost (downstream of altered splice site)
31553162HELIXmight get lost (downstream of altered splice site)
31583158DISULFIDBy similarity.might get lost (downstream of altered splice site)
31623162DISULFIDBy similarity.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 8916 / 8916
position (AA) of stopcodon in wt / mu AA sequence 2972 / 2972
position of stopcodon in wt / mu cDNA 8916 / 8916
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 1 / 1
chromosome 2
strand -1
last intron/exon boundary 8876
theoretical NMD boundary in CDS 8825
length of CDS 8916
coding sequence (CDS) position 8162
cDNA position
(for ins/del: last normal base / first normal base)		 8162
gDNA position
(for ins/del: last normal base / first normal base)		 78056
chromosomal position
(for ins/del: last normal base / first normal base)		 238244963
original gDNA sequence snippet CAAGCCTGTGGCCACAAAGATGGCCACTGTTAGACCCCCAG
altered gDNA sequence snippet CAAGCCTGTGGCCACAAAGACGGCCACTGTTAGACCCCCAG
original cDNA sequence snippet CAAGCCTGTGGCCACAAAGATGGCCACTGTTAGACCCCCAG
altered cDNA sequence snippet CAAGCCTGTGGCCACAAAGACGGCCACTGTTAGACCCCCAG
wildtype AA sequence MRKHRHLPLV AVFCLFLSGF PTTHAQQQQA AQDSADIIFL IDGSNNTGSV NFAVILDFLV
NLLEKLPIGT QQIRVGVVQF SDEPRTMFSL DTYSTKAQVL GAVKALGFAG GELANIGLAL
DFVVENHFTR AGGSRVEEGV PQVLVLISAG PSSDEIRYGV VALKQASVFS FGLGAQAASR
AELQHIATDD NLVFTVPEFR SFGDLQEKLL PYIVGVAQRH IVLKPPTIVT QVIEVNKRDI
VFLVDGSSAL GLANFNAIRD FIAKVIQRLE IGQDLIQVAV AQYADTVRPE FYFNTHPTKR
EVITAVRKMK PLDGSALYTG SALDFVRNNL FTSSAGYRAA EGIPKLLVLI TGGKSLDEIS
QPAQELKRSS IMAFAIGNKG ADQAELEEIA FDSSLVFIPA EFRAAPLQGM LPGLLAPLRT
LSGTPEVHSN KRDIIFLLDG SANVGKTNFP YVRDFVMNLV NSLDIGNDNI RVGLVQFSDT
PVTEFSLNTY QTKSDILGHL RQLQLQGGSG LNTGSALSYV YANHFTEAGG SRIREHVPQL
LLLLTAGQSE DSYLQAANAL TRAGILTFCV GASQANKAEL EQIAFNPSLV YLMDDFSSLP
ALPQQLIQPL TTYVSGGVEE VPLAQPESKR DILFLFDGSA NLVGQFPVVR DFLYKIIDEL
NVKPEGTRIA VAQYSDDVKV ESRFDEHQSK PEILNLVKRM KIKTGKALNL GYALDYAQRY
IFVKSAGSRI EDGVLQFLVL LVAGRSSDRV DGPASNLKQS GVVPFIFQAK NADPAELEQI
VLSPAFILAA ESLPKIGDLH PQIVNLLKSV HNGAPAPVSG EKDVVFLLDG SEGVRSGFPL
LKEFVQRVVE SLDVGQDRVR VAVVQYSDRT RPEFYLNSYM NKQDVVNAVR QLTLLGGPTP
NTGAALEFVL RNILVSSAGS RITEGVPQLL IVLTADRSGD DVRNPSVVVK RGGAVPIGIG
IGNADITEMQ TISFIPDFAV AIPTFRQLGT VQQVISERVT QLTREELSRL QPVLQPLPSP
GVGGKRDVVF LIDGSQSAGP EFQYVRTLIE RLVDYLDVGF DTTRVAVIQF SDDPKVEFLL
NAHSSKDEVQ NAVQRLRPKG GRQINVGNAL EYVSRNIFKR PLGSRIEEGV PQFLVLISSG
KSDDEVDDPA VELKQFGVAP FTIARNADQE ELVKISLSPE YVFSVSTFRE LPSLEQKLLT
PITTLTSEQI QKLLASTRYP PPAVESDAAD IVFLIDSSEG VRPDGFAHIR DFVSRIVRRL
NIGPSKVRVG VVQFSNDVFP EFYLKTYRSQ APVLDAIRRL RLRGGSPLNT GKALEFVARN
LFVKSAGSRI EDGVPQHLVL VLGGKSQDDV SRFAQVIRSS GIVSLGVGDR NIDRTELQTI
TNDPRLVFTV REFRELPNIE ERIMNSFGPS AATPAPPGVD TPPPSRPEKK KADIVFLLDG
SINFRRDSFQ EVLRFVSEIV DTVYEDGDSI QVGLVQYNSD PTDEFFLKDF STKRQIIDAI
NKVVYKGGRH ANTKVGLEHL RVNHFVPEAG SRLDQRVPQI AFVITGGKSV EDAQDVSLAL
TQRGVKVFAV GVRNIDSEEV GKIASNSATA FRVGNVQELS ELSEQVLETL HDAMHETLCP
GVTDAAKACN LDVILGFDGS RDQNVFVAQK GFESKVDAIL NRISQMHRVS CSGGRSPTVR
VSVVANTPSG PVEAFDFDEY QPEMLEKFRN MRSQHPYVLT EDTLKVYLNK FRQSSPDSVK
VVIHFTDGAD GDLADLHRAS ENLRQEGVRA LILVGLERVV NLERLMHLEF GRGFMYDRPL
RLNLLDLDYE LAEQLDNIAE KACCGVPCKC SGQRGDRGPI GSIGPKGIPG EDGYRGYPGD
EGGPGERGPP GVNGTQGFQG CPGQRGVKGS RGFPGEKGEV GEIGLDGLDG EDGDKGLPGS
SGEKGNPGRR GDKGPRGEKG ERGDVGIRGD PGNPGQDSQE RGPKGETGDL GPMGVPGRDG
VPGGPGETGK NGGFGRRGPP GAKGNKGGPG QPGFEGEQGT RGAQGPAGPA GPPGLIGEQG
ISGPRGSGGA AGAPGERGRT GPLGRKGEPG EPGPKGGIGN RGPRGETGDD GRDGVGSEGR
RGKKGERGFP GYPGPKGNPG EPGLNGTTGP KGIRGRRGNS GPPGIVGQKG DPGYPGPAGP
KGNRGDSIDQ CALIQSIKDK CPCCYGPLEC PVFPTELAFA LDTSEGVNQD TFGRMRDVVL
SIVNDLTIAE SNCPRGARVA VVTYNNEVTT EIRFADSKRK SVLLDKIKNL QVALTSKQQS
LETAMSFVAR NTFKRVRNGF LMRKVAVFFS NTPTRASPQL REAVLKLSDA GITPLFLTRQ
EDRQLINALQ INNTAVGHAL VLPAGRDLTD FLENVLTCHV CLDICNIDPS CGFGSWRPSF
RDRRAAGSDV DIDMAFILDS AETTTLFQFN EMKKYIAYLV RQLDMSPDPK ASQHFARVAV
VQHAPSESVD NASMPPVKVE FSLTDYGSKE KLVDFLSRGM TQLQGTRALG SAIEYTIENV
FESAPNPRDL KIVVLMLTGE VPEQQLEEAQ RVILQAKCKG YFFVVLGIGR KVNIKEVYTF
ASEPNDVFFK LVDKSTELNE EPLMRFGRLL PSFVSSENAF YLSPDIRKQC DWFQGDQPTK
NLVKFGHKQV NVPNNVTSSP TSNPVTTTKP VTTTKPVTTT TKPVTTTTKP VTIINQPSVK
PAAAKPAPAK PVAAKPVATK MATVRPPVAV KPATAAKPVA AKPAAVRPPA AAAAKPVATK
PEVPRPQAAK PAATKPATTK PMVKMSREVQ VFEITENSAK LHWERAEPPG PYFYDLTVTS
AHDQSLVLKQ NLTVTDRVIG GLLAGQTYHV AVVCYLRSQV RATYHGSFST KKSQPPPPQP
ARSASSSTIN LMVSTEPLAL TETDICKLPK DEGTCRDFIL KWYYDPNTKS CARFWYGGCG
GNENKFGSQK ECEKVCAPVL AKPGVISVMG T*
mutated AA sequence MRKHRHLPLV AVFCLFLSGF PTTHAQQQQA AQDSADIIFL IDGSNNTGSV NFAVILDFLV
NLLEKLPIGT QQIRVGVVQF SDEPRTMFSL DTYSTKAQVL GAVKALGFAG GELANIGLAL
DFVVENHFTR AGGSRVEEGV PQVLVLISAG PSSDEIRYGV VALKQASVFS FGLGAQAASR
AELQHIATDD NLVFTVPEFR SFGDLQEKLL PYIVGVAQRH IVLKPPTIVT QVIEVNKRDI
VFLVDGSSAL GLANFNAIRD FIAKVIQRLE IGQDLIQVAV AQYADTVRPE FYFNTHPTKR
EVITAVRKMK PLDGSALYTG SALDFVRNNL FTSSAGYRAA EGIPKLLVLI TGGKSLDEIS
QPAQELKRSS IMAFAIGNKG ADQAELEEIA FDSSLVFIPA EFRAAPLQGM LPGLLAPLRT
LSGTPEVHSN KRDIIFLLDG SANVGKTNFP YVRDFVMNLV NSLDIGNDNI RVGLVQFSDT
PVTEFSLNTY QTKSDILGHL RQLQLQGGSG LNTGSALSYV YANHFTEAGG SRIREHVPQL
LLLLTAGQSE DSYLQAANAL TRAGILTFCV GASQANKAEL EQIAFNPSLV YLMDDFSSLP
ALPQQLIQPL TTYVSGGVEE VPLAQPESKR DILFLFDGSA NLVGQFPVVR DFLYKIIDEL
NVKPEGTRIA VAQYSDDVKV ESRFDEHQSK PEILNLVKRM KIKTGKALNL GYALDYAQRY
IFVKSAGSRI EDGVLQFLVL LVAGRSSDRV DGPASNLKQS GVVPFIFQAK NADPAELEQI
VLSPAFILAA ESLPKIGDLH PQIVNLLKSV HNGAPAPVSG EKDVVFLLDG SEGVRSGFPL
LKEFVQRVVE SLDVGQDRVR VAVVQYSDRT RPEFYLNSYM NKQDVVNAVR QLTLLGGPTP
NTGAALEFVL RNILVSSAGS RITEGVPQLL IVLTADRSGD DVRNPSVVVK RGGAVPIGIG
IGNADITEMQ TISFIPDFAV AIPTFRQLGT VQQVISERVT QLTREELSRL QPVLQPLPSP
GVGGKRDVVF LIDGSQSAGP EFQYVRTLIE RLVDYLDVGF DTTRVAVIQF SDDPKVEFLL
NAHSSKDEVQ NAVQRLRPKG GRQINVGNAL EYVSRNIFKR PLGSRIEEGV PQFLVLISSG
KSDDEVDDPA VELKQFGVAP FTIARNADQE ELVKISLSPE YVFSVSTFRE LPSLEQKLLT
PITTLTSEQI QKLLASTRYP PPAVESDAAD IVFLIDSSEG VRPDGFAHIR DFVSRIVRRL
NIGPSKVRVG VVQFSNDVFP EFYLKTYRSQ APVLDAIRRL RLRGGSPLNT GKALEFVARN
LFVKSAGSRI EDGVPQHLVL VLGGKSQDDV SRFAQVIRSS GIVSLGVGDR NIDRTELQTI
TNDPRLVFTV REFRELPNIE ERIMNSFGPS AATPAPPGVD TPPPSRPEKK KADIVFLLDG
SINFRRDSFQ EVLRFVSEIV DTVYEDGDSI QVGLVQYNSD PTDEFFLKDF STKRQIIDAI
NKVVYKGGRH ANTKVGLEHL RVNHFVPEAG SRLDQRVPQI AFVITGGKSV EDAQDVSLAL
TQRGVKVFAV GVRNIDSEEV GKIASNSATA FRVGNVQELS ELSEQVLETL HDAMHETLCP
GVTDAAKACN LDVILGFDGS RDQNVFVAQK GFESKVDAIL NRISQMHRVS CSGGRSPTVR
VSVVANTPSG PVEAFDFDEY QPEMLEKFRN MRSQHPYVLT EDTLKVYLNK FRQSSPDSVK
VVIHFTDGAD GDLADLHRAS ENLRQEGVRA LILVGLERVV NLERLMHLEF GRGFMYDRPL
RLNLLDLDYE LAEQLDNIAE KACCGVPCKC SGQRGDRGPI GSIGPKGIPG EDGYRGYPGD
EGGPGERGPP GVNGTQGFQG CPGQRGVKGS RGFPGEKGEV GEIGLDGLDG EDGDKGLPGS
SGEKGNPGRR GDKGPRGEKG ERGDVGIRGD PGNPGQDSQE RGPKGETGDL GPMGVPGRDG
VPGGPGETGK NGGFGRRGPP GAKGNKGGPG QPGFEGEQGT RGAQGPAGPA GPPGLIGEQG
ISGPRGSGGA AGAPGERGRT GPLGRKGEPG EPGPKGGIGN RGPRGETGDD GRDGVGSEGR
RGKKGERGFP GYPGPKGNPG EPGLNGTTGP KGIRGRRGNS GPPGIVGQKG DPGYPGPAGP
KGNRGDSIDQ CALIQSIKDK CPCCYGPLEC PVFPTELAFA LDTSEGVNQD TFGRMRDVVL
SIVNDLTIAE SNCPRGARVA VVTYNNEVTT EIRFADSKRK SVLLDKIKNL QVALTSKQQS
LETAMSFVAR NTFKRVRNGF LMRKVAVFFS NTPTRASPQL REAVLKLSDA GITPLFLTRQ
EDRQLINALQ INNTAVGHAL VLPAGRDLTD FLENVLTCHV CLDICNIDPS CGFGSWRPSF
RDRRAAGSDV DIDMAFILDS AETTTLFQFN EMKKYIAYLV RQLDMSPDPK ASQHFARVAV
VQHAPSESVD NASMPPVKVE FSLTDYGSKE KLVDFLSRGM TQLQGTRALG SAIEYTIENV
FESAPNPRDL KIVVLMLTGE VPEQQLEEAQ RVILQAKCKG YFFVVLGIGR KVNIKEVYTF
ASEPNDVFFK LVDKSTELNE EPLMRFGRLL PSFVSSENAF YLSPDIRKQC DWFQGDQPTK
NLVKFGHKQV NVPNNVTSSP TSNPVTTTKP VTTTKPVTTT TKPVTTTTKP VTIINQPSVK
PAAAKPAPAK PVAAKPVATK TATVRPPVAV KPATAAKPVA AKPAAVRPPA AAAAKPVATK
PEVPRPQAAK PAATKPATTK PMVKMSREVQ VFEITENSAK LHWERAEPPG PYFYDLTVTS
AHDQSLVLKQ NLTVTDRVIG GLLAGQTYHV AVVCYLRSQV RATYHGSFST KKSQPPPPQP
ARSASSSTIN LMVSTEPLAL TETDICKLPK DEGTCRDFIL KWYYDPNTKS CARFWYGGCG
GNENKFGSQK ECEKVCAPVL AKPGVISVMG T*
speed 0.82 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999998 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:238244963A>GN/A show variant in all transcripts   IGV
HGNC symbol COL6A3
Ensembl transcript ID ENST00000347401
Genbank transcript ID N/A
UniProt peptide P12111
alteration type single base exchange
alteration region CDS
DNA changes c.8177T>C
cDNA.8462T>C
g.78056T>C
AA changes M2726T Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 2726
frameshift no
known variant Reference ID: rs6728818
databasehomozygous (G/G)heterozygousallele carriers
1000G107010482118
ExAC25150-175337617
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.8770
0.1560
(flanking)-1.4540
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased78053wt: 0.2851 / mu: 0.3345 (marginal change - not scored)wt: CACAAAGATGGCCAC
mu: CACAAAGACGGCCAC		 CAAA|gatg
Donor marginally increased78048wt: 0.8509 / mu: 0.8900 (marginal change - not scored)wt: GTGGCCACAAAGATG
mu: GTGGCCACAAAGACG		 GGCC|acaa
Donor marginally increased78051wt: 0.8907 / mu: 0.9485 (marginal change - not scored)wt: GCCACAAAGATGGCC
mu: GCCACAAAGACGGCC		 CACA|aaga
Donor gained780570.52mu: AAGACGGCCACTGTT GACG|gcca
distance from splice site 186
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      2726KPVAAKPVATKMATVRPPVAVKPA
mutated  not conserved    2726KPVAAKPVATKTATVRPPVAVKP
Ptroglodytes  not conserved  ENSPTRG00000013074  2927KPVAAKPVATKTATV
Mmulatta  not conserved  ENSMMUG00000014049  2714KPVAAKPVATKTATVRPPVAVKP
Fcatus  no alignment  ENSFCAG00000012720  n/a
Mmusculus  not conserved  ENSMUSG00000048126  2413PAQPAAAQPMPAQPVLTKSAAVKPASANKPVAAKPVATNTATATARP
Ggallus  not conserved  ENSGALG00000003923  2906TTTASTTAQTRATERP------
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000077139  3502VNTHNVNGHVASTYKGIVPTK
Dmelanogaster  no homologue    
Celegans  no alignment  C18H7.1  n/a
Xtropicalis  no alignment  ENSXETG00000031229  n/a
protein features
start (aa)end (aa)featuredetails 
23763177REGIONNonhelical region.lost
26192815DOMAINVWFA 12.lost
28612861CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
28632898COMPBIASThr-rich.might get lost (downstream of altered splice site)
29082983COMPBIASAla-rich.might get lost (downstream of altered splice site)
29562956CONFLICTMissing (in Ref. 1; CAA36267).might get lost (downstream of altered splice site)
29883076DOMAINFibronectin type-III.might get lost (downstream of altered splice site)
29922992CONFLICTS -> L (in Ref. 1; CAA36267).might get lost (downstream of altered splice site)
30373037CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
31103113HELIXmight get lost (downstream of altered splice site)
31123112DISULFIDBy similarity.might get lost (downstream of altered splice site)
31123162DOMAINBPTI/Kunitz inhibitor.might get lost (downstream of altered splice site)
31203122STRANDmight get lost (downstream of altered splice site)
31213121DISULFIDBy similarity.might get lost (downstream of altered splice site)
31223123SITEReactive bond.might get lost (downstream of altered splice site)
31253131STRANDmight get lost (downstream of altered splice site)
31323135TURNmight get lost (downstream of altered splice site)
31363142STRANDmight get lost (downstream of altered splice site)
31373137DISULFIDBy similarity.might get lost (downstream of altered splice site)
31443146STRANDmight get lost (downstream of altered splice site)
31453145DISULFIDBy similarity.might get lost (downstream of altered splice site)
31523154STRANDmight get lost (downstream of altered splice site)
31553162HELIXmight get lost (downstream of altered splice site)
31583158DISULFIDBy similarity.might get lost (downstream of altered splice site)
31623162DISULFIDBy similarity.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 8931 / 8931
position (AA) of stopcodon in wt / mu AA sequence 2977 / 2977
position of stopcodon in wt / mu cDNA 9216 / 9216
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 286 / 286
chromosome 2
strand -1
last intron/exon boundary 9176
theoretical NMD boundary in CDS 8840
length of CDS 8931
coding sequence (CDS) position 8177
cDNA position
(for ins/del: last normal base / first normal base)		 8462
gDNA position
(for ins/del: last normal base / first normal base)		 78056
chromosomal position
(for ins/del: last normal base / first normal base)		 238244963
original gDNA sequence snippet CAAGCCTGTGGCCACAAAGATGGCCACTGTTAGACCCCCAG
altered gDNA sequence snippet CAAGCCTGTGGCCACAAAGACGGCCACTGTTAGACCCCCAG
original cDNA sequence snippet CAAGCCTGTGGCCACAAAGATGGCCACTGTTAGACCCCCAG
altered cDNA sequence snippet CAAGCCTGTGGCCACAAAGACGGCCACTGTTAGACCCCCAG
wildtype AA sequence MRKHRHLPLV AVFCLFLSGF PTTHAQQQQA DVKNGAAADI IFLVDSSWTI GEEHFQLVRE
FLYDVVKSLA VGENDFHFAL VQFNGNPHTE FLLNTYRTKQ EVLSHISNMS YIGGTNQTGK
GLEYIMQSHL TKAAGSRAGD GVPQVIVVLT DGHSKDGLAL PSAELKSADV NVFAIGVEDA
DEGALKEIAS EPLNMHMFNL ENFTSLHDIV GNLVSCVHSS VSPERAGDTE TLKDITVIEV
NKRDIVFLVD GSSALGLANF NAIRDFIAKV IQRLEIGQDL IQVAVAQYAD TVRPEFYFNT
HPTKREVITA VRKMKPLDGS ALYTGSALDF VRNNLFTSSA GYRAAEGIPK LLVLITGGKS
LDEISQPAQE LKRSSIMAFA IGNKGADQAE LEEIAFDSSL VFIPAEFRAA PLQGMLPGLL
APLRTLSGTP EVHSNKRDII FLLDGSANVG KTNFPYVRDF VMNLVNSLDI GNDNIRVGLV
QFSDTPVTEF SLNTYQTKSD ILGHLRQLQL QGGSGLNTGS ALSYVYANHF TEAGGSRIRE
HVPQLLLLLT AGQSEDSYLQ AANALTRAGI LTFCVGASQA NKAELEQIAF NPSLVYLMDD
FSSLPALPQQ LIQPLTTYVS GGVEEVPLAQ PESKRDILFL FDGSANLVGQ FPVVRDFLYK
IIDELNVKPE GTRIAVAQYS DDVKVESRFD EHQSKPEILN LVKRMKIKTG KALNLGYALD
YAQRYIFVKS AGSRIEDGVL QFLVLLVAGR SSDRVDGPAS NLKQSGVVPF IFQAKNADPA
ELEQIVLSPA FILAAESLPK IGDLHPQIVN LLKSVHNGAP APVSGEKDVV FLLDGSEGVR
SGFPLLKEFV QRVVESLDVG QDRVRVAVVQ YSDRTRPEFY LNSYMNKQDV VNAVRQLTLL
GGPTPNTGAA LEFVLRNILV SSAGSRITEG VPQLLIVLTA DRSGDDVRNP SVVVKRGGAV
PIGIGIGNAD ITEMQTISFI PDFAVAIPTF RQLGTVQQVI SERVTQLTRE ELSRLQPVLQ
PLPSPGVGGK RDVVFLIDGS QSAGPEFQYV RTLIERLVDY LDVGFDTTRV AVIQFSDDPK
VEFLLNAHSS KDEVQNAVQR LRPKGGRQIN VGNALEYVSR NIFKRPLGSR IEEGVPQFLV
LISSGKSDDE VDDPAVELKQ FGVAPFTIAR NADQEELVKI SLSPEYVFSV STFRELPSLE
QKLLTPITTL TSEQIQKLLA STRYPPPAVE SDAADIVFLI DSSEGVRPDG FAHIRDFVSR
IVRRLNIGPS KVRVGVVQFS NDVFPEFYLK TYRSQAPVLD AIRRLRLRGG SPLNTGKALE
FVARNLFVKS AGSRIEDGVP QHLVLVLGGK SQDDVSRFAQ VIRSSGIVSL GVGDRNIDRT
ELQTITNDPR LVFTVREFRE LPNIEERIMN SFGPSAATPA PPGVDTPPPS RPEKKKADIV
FLLDGSINFR RDSFQEVLRF VSEIVDTVYE DGDSIQVGLV QYNSDPTDEF FLKDFSTKRQ
IIDAINKVVY KGGRHANTKV GLEHLRVNHF VPEAGSRLDQ RVPQIAFVIT GGKSVEDAQD
VSLALTQRGV KVFAVGVRNI DSEEVGKIAS NSATAFRVGN VQELSELSEQ VLETLHDAMH
ETLCPGVTDA AKACNLDVIL GFDGSRDQNV FVAQKGFESK VDAILNRISQ MHRVSCSGGR
SPTVRVSVVA NTPSGPVEAF DFDEYQPEML EKFRNMRSQH PYVLTEDTLK VYLNKFRQSS
PDSVKVVIHF TDGADGDLAD LHRASENLRQ EGVRALILVG LERVVNLERL MHLEFGRGFM
YDRPLRLNLL DLDYELAEQL DNIAEKACCG VPCKCSGQRG DRGPIGSIGP KGIPGEDGYR
GYPGDEGGPG ERGPPGVNGT QGFQGCPGQR GVKGSRGFPG EKGEVGEIGL DGLDGEDGDK
GLPGSSGEKG NPGRRGDKGP RGEKGERGDV GIRGDPGNPG QDSQERGPKG ETGDLGPMGV
PGRDGVPGGP GETGKNGGFG RRGPPGAKGN KGGPGQPGFE GEQGTRGAQG PAGPAGPPGL
IGEQGISGPR GSGGAAGAPG ERGRTGPLGR KGEPGEPGPK GGIGNRGPRG ETGDDGRDGV
GSEGRRGKKG ERGFPGYPGP KGNPGEPGLN GTTGPKGIRG RRGNSGPPGI VGQKGDPGYP
GPAGPKGNRG DSIDQCALIQ SIKDKCPCCY GPLECPVFPT ELAFALDTSE GVNQDTFGRM
RDVVLSIVND LTIAESNCPR GARVAVVTYN NEVTTEIRFA DSKRKSVLLD KIKNLQVALT
SKQQSLETAM SFVARNTFKR VRNGFLMRKV AVFFSNTPTR ASPQLREAVL KLSDAGITPL
FLTRQEDRQL INALQINNTA VGHALVLPAG RDLTDFLENV LTCHVCLDIC NIDPSCGFGS
WRPSFRDRRA AGSDVDIDMA FILDSAETTT LFQFNEMKKY IAYLVRQLDM SPDPKASQHF
ARVAVVQHAP SESVDNASMP PVKVEFSLTD YGSKEKLVDF LSRGMTQLQG TRALGSAIEY
TIENVFESAP NPRDLKIVVL MLTGEVPEQQ LEEAQRVILQ AKCKGYFFVV LGIGRKVNIK
EVYTFASEPN DVFFKLVDKS TELNEEPLMR FGRLLPSFVS SENAFYLSPD IRKQCDWFQG
DQPTKNLVKF GHKQVNVPNN VTSSPTSNPV TTTKPVTTTK PVTTTTKPVT TTTKPVTIIN
QPSVKPAAAK PAPAKPVAAK PVATKMATVR PPVAVKPATA AKPVAAKPAA VRPPAAAAAK
PVATKPEVPR PQAAKPAATK PATTKPMVKM SREVQVFEIT ENSAKLHWER AEPPGPYFYD
LTVTSAHDQS LVLKQNLTVT DRVIGGLLAG QTYHVAVVCY LRSQVRATYH GSFSTKKSQP
PPPQPARSAS SSTINLMVST EPLALTETDI CKLPKDEGTC RDFILKWYYD PNTKSCARFW
YGGCGGNENK FGSQKECEKV CAPVLAKPGV ISVMGT*
mutated AA sequence MRKHRHLPLV AVFCLFLSGF PTTHAQQQQA DVKNGAAADI IFLVDSSWTI GEEHFQLVRE
FLYDVVKSLA VGENDFHFAL VQFNGNPHTE FLLNTYRTKQ EVLSHISNMS YIGGTNQTGK
GLEYIMQSHL TKAAGSRAGD GVPQVIVVLT DGHSKDGLAL PSAELKSADV NVFAIGVEDA
DEGALKEIAS EPLNMHMFNL ENFTSLHDIV GNLVSCVHSS VSPERAGDTE TLKDITVIEV
NKRDIVFLVD GSSALGLANF NAIRDFIAKV IQRLEIGQDL IQVAVAQYAD TVRPEFYFNT
HPTKREVITA VRKMKPLDGS ALYTGSALDF VRNNLFTSSA GYRAAEGIPK LLVLITGGKS
LDEISQPAQE LKRSSIMAFA IGNKGADQAE LEEIAFDSSL VFIPAEFRAA PLQGMLPGLL
APLRTLSGTP EVHSNKRDII FLLDGSANVG KTNFPYVRDF VMNLVNSLDI GNDNIRVGLV
QFSDTPVTEF SLNTYQTKSD ILGHLRQLQL QGGSGLNTGS ALSYVYANHF TEAGGSRIRE
HVPQLLLLLT AGQSEDSYLQ AANALTRAGI LTFCVGASQA NKAELEQIAF NPSLVYLMDD
FSSLPALPQQ LIQPLTTYVS GGVEEVPLAQ PESKRDILFL FDGSANLVGQ FPVVRDFLYK
IIDELNVKPE GTRIAVAQYS DDVKVESRFD EHQSKPEILN LVKRMKIKTG KALNLGYALD
YAQRYIFVKS AGSRIEDGVL QFLVLLVAGR SSDRVDGPAS NLKQSGVVPF IFQAKNADPA
ELEQIVLSPA FILAAESLPK IGDLHPQIVN LLKSVHNGAP APVSGEKDVV FLLDGSEGVR
SGFPLLKEFV QRVVESLDVG QDRVRVAVVQ YSDRTRPEFY LNSYMNKQDV VNAVRQLTLL
GGPTPNTGAA LEFVLRNILV SSAGSRITEG VPQLLIVLTA DRSGDDVRNP SVVVKRGGAV
PIGIGIGNAD ITEMQTISFI PDFAVAIPTF RQLGTVQQVI SERVTQLTRE ELSRLQPVLQ
PLPSPGVGGK RDVVFLIDGS QSAGPEFQYV RTLIERLVDY LDVGFDTTRV AVIQFSDDPK
VEFLLNAHSS KDEVQNAVQR LRPKGGRQIN VGNALEYVSR NIFKRPLGSR IEEGVPQFLV
LISSGKSDDE VDDPAVELKQ FGVAPFTIAR NADQEELVKI SLSPEYVFSV STFRELPSLE
QKLLTPITTL TSEQIQKLLA STRYPPPAVE SDAADIVFLI DSSEGVRPDG FAHIRDFVSR
IVRRLNIGPS KVRVGVVQFS NDVFPEFYLK TYRSQAPVLD AIRRLRLRGG SPLNTGKALE
FVARNLFVKS AGSRIEDGVP QHLVLVLGGK SQDDVSRFAQ VIRSSGIVSL GVGDRNIDRT
ELQTITNDPR LVFTVREFRE LPNIEERIMN SFGPSAATPA PPGVDTPPPS RPEKKKADIV
FLLDGSINFR RDSFQEVLRF VSEIVDTVYE DGDSIQVGLV QYNSDPTDEF FLKDFSTKRQ
IIDAINKVVY KGGRHANTKV GLEHLRVNHF VPEAGSRLDQ RVPQIAFVIT GGKSVEDAQD
VSLALTQRGV KVFAVGVRNI DSEEVGKIAS NSATAFRVGN VQELSELSEQ VLETLHDAMH
ETLCPGVTDA AKACNLDVIL GFDGSRDQNV FVAQKGFESK VDAILNRISQ MHRVSCSGGR
SPTVRVSVVA NTPSGPVEAF DFDEYQPEML EKFRNMRSQH PYVLTEDTLK VYLNKFRQSS
PDSVKVVIHF TDGADGDLAD LHRASENLRQ EGVRALILVG LERVVNLERL MHLEFGRGFM
YDRPLRLNLL DLDYELAEQL DNIAEKACCG VPCKCSGQRG DRGPIGSIGP KGIPGEDGYR
GYPGDEGGPG ERGPPGVNGT QGFQGCPGQR GVKGSRGFPG EKGEVGEIGL DGLDGEDGDK
GLPGSSGEKG NPGRRGDKGP RGEKGERGDV GIRGDPGNPG QDSQERGPKG ETGDLGPMGV
PGRDGVPGGP GETGKNGGFG RRGPPGAKGN KGGPGQPGFE GEQGTRGAQG PAGPAGPPGL
IGEQGISGPR GSGGAAGAPG ERGRTGPLGR KGEPGEPGPK GGIGNRGPRG ETGDDGRDGV
GSEGRRGKKG ERGFPGYPGP KGNPGEPGLN GTTGPKGIRG RRGNSGPPGI VGQKGDPGYP
GPAGPKGNRG DSIDQCALIQ SIKDKCPCCY GPLECPVFPT ELAFALDTSE GVNQDTFGRM
RDVVLSIVND LTIAESNCPR GARVAVVTYN NEVTTEIRFA DSKRKSVLLD KIKNLQVALT
SKQQSLETAM SFVARNTFKR VRNGFLMRKV AVFFSNTPTR ASPQLREAVL KLSDAGITPL
FLTRQEDRQL INALQINNTA VGHALVLPAG RDLTDFLENV LTCHVCLDIC NIDPSCGFGS
WRPSFRDRRA AGSDVDIDMA FILDSAETTT LFQFNEMKKY IAYLVRQLDM SPDPKASQHF
ARVAVVQHAP SESVDNASMP PVKVEFSLTD YGSKEKLVDF LSRGMTQLQG TRALGSAIEY
TIENVFESAP NPRDLKIVVL MLTGEVPEQQ LEEAQRVILQ AKCKGYFFVV LGIGRKVNIK
EVYTFASEPN DVFFKLVDKS TELNEEPLMR FGRLLPSFVS SENAFYLSPD IRKQCDWFQG
DQPTKNLVKF GHKQVNVPNN VTSSPTSNPV TTTKPVTTTK PVTTTTKPVT TTTKPVTIIN
QPSVKPAAAK PAPAKPVAAK PVATKTATVR PPVAVKPATA AKPVAAKPAA VRPPAAAAAK
PVATKPEVPR PQAAKPAATK PATTKPMVKM SREVQVFEIT ENSAKLHWER AEPPGPYFYD
LTVTSAHDQS LVLKQNLTVT DRVIGGLLAG QTYHVAVVCY LRSQVRATYH GSFSTKKSQP
PPPQPARSAS SSTINLMVST EPLALTETDI CKLPKDEGTC RDFILKWYYD PNTKSCARFW
YGGCGGNENK FGSQKECEKV CAPVLAKPGV ISVMGT*
speed 0.82 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999998 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:238244963A>GN/A show variant in all transcripts   IGV
HGNC symbol COL6A3
Ensembl transcript ID ENST00000353578
Genbank transcript ID NM_057167
UniProt peptide P12111
alteration type single base exchange
alteration region CDS
DNA changes c.8162T>C
cDNA.8447T>C
g.78056T>C
AA changes M2721T Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 2721
frameshift no
known variant Reference ID: rs6728818
databasehomozygous (G/G)heterozygousallele carriers
1000G107010482118
ExAC25150-175337617
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.8770
0.1560
(flanking)-1.4540
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased78053wt: 0.2851 / mu: 0.3345 (marginal change - not scored)wt: CACAAAGATGGCCAC
mu: CACAAAGACGGCCAC		 CAAA|gatg
Donor marginally increased78048wt: 0.8509 / mu: 0.8900 (marginal change - not scored)wt: GTGGCCACAAAGATG
mu: GTGGCCACAAAGACG		 GGCC|acaa
Donor marginally increased78051wt: 0.8907 / mu: 0.9485 (marginal change - not scored)wt: GCCACAAAGATGGCC
mu: GCCACAAAGACGGCC		 CACA|aaga
Donor gained780570.52mu: AAGACGGCCACTGTT GACG|gcca
distance from splice site 186
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      2721KPVAAKPVATKMATVRPPVAVKPA
mutated  not conserved    2721KPVAAKPVATKTATVRPPVAVKP
Ptroglodytes  not conserved  ENSPTRG00000013074  2927KPVAAKPVATKTATVRPPVAVRP
Mmulatta  not conserved  ENSMMUG00000014049  2714KPVAAKPVATKTATVRPPVAVKP
Fcatus  no alignment  ENSFCAG00000012720  n/a
Mmusculus  not conserved  ENSMUSG00000048126  2413PAQPAAAQPMPAQPVLTKSAAVKPASANKPVAAKPVATNTATATARP
Ggallus  not conserved  ENSGALG00000003923  2906QTRATERP------
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000077139  3502GHVASTYKGIVPTK
Dmelanogaster  no homologue    
Celegans  no alignment  C18H7.1  n/a
Xtropicalis  no alignment  ENSXETG00000031229  n/a
protein features
start (aa)end (aa)featuredetails 
23763177REGIONNonhelical region.lost
26192815DOMAINVWFA 12.lost
28612861CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
28632898COMPBIASThr-rich.might get lost (downstream of altered splice site)
29082983COMPBIASAla-rich.might get lost (downstream of altered splice site)
29562956CONFLICTMissing (in Ref. 1; CAA36267).might get lost (downstream of altered splice site)
29883076DOMAINFibronectin type-III.might get lost (downstream of altered splice site)
29922992CONFLICTS -> L (in Ref. 1; CAA36267).might get lost (downstream of altered splice site)
30373037CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
31103113HELIXmight get lost (downstream of altered splice site)
31123112DISULFIDBy similarity.might get lost (downstream of altered splice site)
31123162DOMAINBPTI/Kunitz inhibitor.might get lost (downstream of altered splice site)
31203122STRANDmight get lost (downstream of altered splice site)
31213121DISULFIDBy similarity.might get lost (downstream of altered splice site)
31223123SITEReactive bond.might get lost (downstream of altered splice site)
31253131STRANDmight get lost (downstream of altered splice site)
31323135TURNmight get lost (downstream of altered splice site)
31363142STRANDmight get lost (downstream of altered splice site)
31373137DISULFIDBy similarity.might get lost (downstream of altered splice site)
31443146STRANDmight get lost (downstream of altered splice site)
31453145DISULFIDBy similarity.might get lost (downstream of altered splice site)
31523154STRANDmight get lost (downstream of altered splice site)
31553162HELIXmight get lost (downstream of altered splice site)
31583158DISULFIDBy similarity.might get lost (downstream of altered splice site)
31623162DISULFIDBy similarity.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 8916 / 8916
position (AA) of stopcodon in wt / mu AA sequence 2972 / 2972
position of stopcodon in wt / mu cDNA 9201 / 9201
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 286 / 286
chromosome 2
strand -1
last intron/exon boundary 9161
theoretical NMD boundary in CDS 8825
length of CDS 8916
coding sequence (CDS) position 8162
cDNA position
(for ins/del: last normal base / first normal base)		 8447
gDNA position
(for ins/del: last normal base / first normal base)		 78056
chromosomal position
(for ins/del: last normal base / first normal base)		 238244963
original gDNA sequence snippet CAAGCCTGTGGCCACAAAGATGGCCACTGTTAGACCCCCAG
altered gDNA sequence snippet CAAGCCTGTGGCCACAAAGACGGCCACTGTTAGACCCCCAG
original cDNA sequence snippet CAAGCCTGTGGCCACAAAGATGGCCACTGTTAGACCCCCAG
altered cDNA sequence snippet CAAGCCTGTGGCCACAAAGACGGCCACTGTTAGACCCCCAG
wildtype AA sequence MRKHRHLPLV AVFCLFLSGF PTTHAQQQQA AQDSADIIFL IDGSNNTGSV NFAVILDFLV
NLLEKLPIGT QQIRVGVVQF SDEPRTMFSL DTYSTKAQVL GAVKALGFAG GELANIGLAL
DFVVENHFTR AGGSRVEEGV PQVLVLISAG PSSDEIRYGV VALKQASVFS FGLGAQAASR
AELQHIATDD NLVFTVPEFR SFGDLQEKLL PYIVGVAQRH IVLKPPTIVT QVIEVNKRDI
VFLVDGSSAL GLANFNAIRD FIAKVIQRLE IGQDLIQVAV AQYADTVRPE FYFNTHPTKR
EVITAVRKMK PLDGSALYTG SALDFVRNNL FTSSAGYRAA EGIPKLLVLI TGGKSLDEIS
QPAQELKRSS IMAFAIGNKG ADQAELEEIA FDSSLVFIPA EFRAAPLQGM LPGLLAPLRT
LSGTPEVHSN KRDIIFLLDG SANVGKTNFP YVRDFVMNLV NSLDIGNDNI RVGLVQFSDT
PVTEFSLNTY QTKSDILGHL RQLQLQGGSG LNTGSALSYV YANHFTEAGG SRIREHVPQL
LLLLTAGQSE DSYLQAANAL TRAGILTFCV GASQANKAEL EQIAFNPSLV YLMDDFSSLP
ALPQQLIQPL TTYVSGGVEE VPLAQPESKR DILFLFDGSA NLVGQFPVVR DFLYKIIDEL
NVKPEGTRIA VAQYSDDVKV ESRFDEHQSK PEILNLVKRM KIKTGKALNL GYALDYAQRY
IFVKSAGSRI EDGVLQFLVL LVAGRSSDRV DGPASNLKQS GVVPFIFQAK NADPAELEQI
VLSPAFILAA ESLPKIGDLH PQIVNLLKSV HNGAPAPVSG EKDVVFLLDG SEGVRSGFPL
LKEFVQRVVE SLDVGQDRVR VAVVQYSDRT RPEFYLNSYM NKQDVVNAVR QLTLLGGPTP
NTGAALEFVL RNILVSSAGS RITEGVPQLL IVLTADRSGD DVRNPSVVVK RGGAVPIGIG
IGNADITEMQ TISFIPDFAV AIPTFRQLGT VQQVISERVT QLTREELSRL QPVLQPLPSP
GVGGKRDVVF LIDGSQSAGP EFQYVRTLIE RLVDYLDVGF DTTRVAVIQF SDDPKVEFLL
NAHSSKDEVQ NAVQRLRPKG GRQINVGNAL EYVSRNIFKR PLGSRIEEGV PQFLVLISSG
KSDDEVDDPA VELKQFGVAP FTIARNADQE ELVKISLSPE YVFSVSTFRE LPSLEQKLLT
PITTLTSEQI QKLLASTRYP PPAVESDAAD IVFLIDSSEG VRPDGFAHIR DFVSRIVRRL
NIGPSKVRVG VVQFSNDVFP EFYLKTYRSQ APVLDAIRRL RLRGGSPLNT GKALEFVARN
LFVKSAGSRI EDGVPQHLVL VLGGKSQDDV SRFAQVIRSS GIVSLGVGDR NIDRTELQTI
TNDPRLVFTV REFRELPNIE ERIMNSFGPS AATPAPPGVD TPPPSRPEKK KADIVFLLDG
SINFRRDSFQ EVLRFVSEIV DTVYEDGDSI QVGLVQYNSD PTDEFFLKDF STKRQIIDAI
NKVVYKGGRH ANTKVGLEHL RVNHFVPEAG SRLDQRVPQI AFVITGGKSV EDAQDVSLAL
TQRGVKVFAV GVRNIDSEEV GKIASNSATA FRVGNVQELS ELSEQVLETL HDAMHETLCP
GVTDAAKACN LDVILGFDGS RDQNVFVAQK GFESKVDAIL NRISQMHRVS CSGGRSPTVR
VSVVANTPSG PVEAFDFDEY QPEMLEKFRN MRSQHPYVLT EDTLKVYLNK FRQSSPDSVK
VVIHFTDGAD GDLADLHRAS ENLRQEGVRA LILVGLERVV NLERLMHLEF GRGFMYDRPL
RLNLLDLDYE LAEQLDNIAE KACCGVPCKC SGQRGDRGPI GSIGPKGIPG EDGYRGYPGD
EGGPGERGPP GVNGTQGFQG CPGQRGVKGS RGFPGEKGEV GEIGLDGLDG EDGDKGLPGS
SGEKGNPGRR GDKGPRGEKG ERGDVGIRGD PGNPGQDSQE RGPKGETGDL GPMGVPGRDG
VPGGPGETGK NGGFGRRGPP GAKGNKGGPG QPGFEGEQGT RGAQGPAGPA GPPGLIGEQG
ISGPRGSGGA AGAPGERGRT GPLGRKGEPG EPGPKGGIGN RGPRGETGDD GRDGVGSEGR
RGKKGERGFP GYPGPKGNPG EPGLNGTTGP KGIRGRRGNS GPPGIVGQKG DPGYPGPAGP
KGNRGDSIDQ CALIQSIKDK CPCCYGPLEC PVFPTELAFA LDTSEGVNQD TFGRMRDVVL
SIVNDLTIAE SNCPRGARVA VVTYNNEVTT EIRFADSKRK SVLLDKIKNL QVALTSKQQS
LETAMSFVAR NTFKRVRNGF LMRKVAVFFS NTPTRASPQL REAVLKLSDA GITPLFLTRQ
EDRQLINALQ INNTAVGHAL VLPAGRDLTD FLENVLTCHV CLDICNIDPS CGFGSWRPSF
RDRRAAGSDV DIDMAFILDS AETTTLFQFN EMKKYIAYLV RQLDMSPDPK ASQHFARVAV
VQHAPSESVD NASMPPVKVE FSLTDYGSKE KLVDFLSRGM TQLQGTRALG SAIEYTIENV
FESAPNPRDL KIVVLMLTGE VPEQQLEEAQ RVILQAKCKG YFFVVLGIGR KVNIKEVYTF
ASEPNDVFFK LVDKSTELNE EPLMRFGRLL PSFVSSENAF YLSPDIRKQC DWFQGDQPTK
NLVKFGHKQV NVPNNVTSSP TSNPVTTTKP VTTTKPVTTT TKPVTTTTKP VTIINQPSVK
PAAAKPAPAK PVAAKPVATK MATVRPPVAV KPATAAKPVA AKPAAVRPPA AAAAKPVATK
PEVPRPQAAK PAATKPATTK PMVKMSREVQ VFEITENSAK LHWERAEPPG PYFYDLTVTS
AHDQSLVLKQ NLTVTDRVIG GLLAGQTYHV AVVCYLRSQV RATYHGSFST KKSQPPPPQP
ARSASSSTIN LMVSTEPLAL TETDICKLPK DEGTCRDFIL KWYYDPNTKS CARFWYGGCG
GNENKFGSQK ECEKVCAPVL AKPGVISVMG T*
mutated AA sequence MRKHRHLPLV AVFCLFLSGF PTTHAQQQQA AQDSADIIFL IDGSNNTGSV NFAVILDFLV
NLLEKLPIGT QQIRVGVVQF SDEPRTMFSL DTYSTKAQVL GAVKALGFAG GELANIGLAL
DFVVENHFTR AGGSRVEEGV PQVLVLISAG PSSDEIRYGV VALKQASVFS FGLGAQAASR
AELQHIATDD NLVFTVPEFR SFGDLQEKLL PYIVGVAQRH IVLKPPTIVT QVIEVNKRDI
VFLVDGSSAL GLANFNAIRD FIAKVIQRLE IGQDLIQVAV AQYADTVRPE FYFNTHPTKR
EVITAVRKMK PLDGSALYTG SALDFVRNNL FTSSAGYRAA EGIPKLLVLI TGGKSLDEIS
QPAQELKRSS IMAFAIGNKG ADQAELEEIA FDSSLVFIPA EFRAAPLQGM LPGLLAPLRT
LSGTPEVHSN KRDIIFLLDG SANVGKTNFP YVRDFVMNLV NSLDIGNDNI RVGLVQFSDT
PVTEFSLNTY QTKSDILGHL RQLQLQGGSG LNTGSALSYV YANHFTEAGG SRIREHVPQL
LLLLTAGQSE DSYLQAANAL TRAGILTFCV GASQANKAEL EQIAFNPSLV YLMDDFSSLP
ALPQQLIQPL TTYVSGGVEE VPLAQPESKR DILFLFDGSA NLVGQFPVVR DFLYKIIDEL
NVKPEGTRIA VAQYSDDVKV ESRFDEHQSK PEILNLVKRM KIKTGKALNL GYALDYAQRY
IFVKSAGSRI EDGVLQFLVL LVAGRSSDRV DGPASNLKQS GVVPFIFQAK NADPAELEQI
VLSPAFILAA ESLPKIGDLH PQIVNLLKSV HNGAPAPVSG EKDVVFLLDG SEGVRSGFPL
LKEFVQRVVE SLDVGQDRVR VAVVQYSDRT RPEFYLNSYM NKQDVVNAVR QLTLLGGPTP
NTGAALEFVL RNILVSSAGS RITEGVPQLL IVLTADRSGD DVRNPSVVVK RGGAVPIGIG
IGNADITEMQ TISFIPDFAV AIPTFRQLGT VQQVISERVT QLTREELSRL QPVLQPLPSP
GVGGKRDVVF LIDGSQSAGP EFQYVRTLIE RLVDYLDVGF DTTRVAVIQF SDDPKVEFLL
NAHSSKDEVQ NAVQRLRPKG GRQINVGNAL EYVSRNIFKR PLGSRIEEGV PQFLVLISSG
KSDDEVDDPA VELKQFGVAP FTIARNADQE ELVKISLSPE YVFSVSTFRE LPSLEQKLLT
PITTLTSEQI QKLLASTRYP PPAVESDAAD IVFLIDSSEG VRPDGFAHIR DFVSRIVRRL
NIGPSKVRVG VVQFSNDVFP EFYLKTYRSQ APVLDAIRRL RLRGGSPLNT GKALEFVARN
LFVKSAGSRI EDGVPQHLVL VLGGKSQDDV SRFAQVIRSS GIVSLGVGDR NIDRTELQTI
TNDPRLVFTV REFRELPNIE ERIMNSFGPS AATPAPPGVD TPPPSRPEKK KADIVFLLDG
SINFRRDSFQ EVLRFVSEIV DTVYEDGDSI QVGLVQYNSD PTDEFFLKDF STKRQIIDAI
NKVVYKGGRH ANTKVGLEHL RVNHFVPEAG SRLDQRVPQI AFVITGGKSV EDAQDVSLAL
TQRGVKVFAV GVRNIDSEEV GKIASNSATA FRVGNVQELS ELSEQVLETL HDAMHETLCP
GVTDAAKACN LDVILGFDGS RDQNVFVAQK GFESKVDAIL NRISQMHRVS CSGGRSPTVR
VSVVANTPSG PVEAFDFDEY QPEMLEKFRN MRSQHPYVLT EDTLKVYLNK FRQSSPDSVK
VVIHFTDGAD GDLADLHRAS ENLRQEGVRA LILVGLERVV NLERLMHLEF GRGFMYDRPL
RLNLLDLDYE LAEQLDNIAE KACCGVPCKC SGQRGDRGPI GSIGPKGIPG EDGYRGYPGD
EGGPGERGPP GVNGTQGFQG CPGQRGVKGS RGFPGEKGEV GEIGLDGLDG EDGDKGLPGS
SGEKGNPGRR GDKGPRGEKG ERGDVGIRGD PGNPGQDSQE RGPKGETGDL GPMGVPGRDG
VPGGPGETGK NGGFGRRGPP GAKGNKGGPG QPGFEGEQGT RGAQGPAGPA GPPGLIGEQG
ISGPRGSGGA AGAPGERGRT GPLGRKGEPG EPGPKGGIGN RGPRGETGDD GRDGVGSEGR
RGKKGERGFP GYPGPKGNPG EPGLNGTTGP KGIRGRRGNS GPPGIVGQKG DPGYPGPAGP
KGNRGDSIDQ CALIQSIKDK CPCCYGPLEC PVFPTELAFA LDTSEGVNQD TFGRMRDVVL
SIVNDLTIAE SNCPRGARVA VVTYNNEVTT EIRFADSKRK SVLLDKIKNL QVALTSKQQS
LETAMSFVAR NTFKRVRNGF LMRKVAVFFS NTPTRASPQL REAVLKLSDA GITPLFLTRQ
EDRQLINALQ INNTAVGHAL VLPAGRDLTD FLENVLTCHV CLDICNIDPS CGFGSWRPSF
RDRRAAGSDV DIDMAFILDS AETTTLFQFN EMKKYIAYLV RQLDMSPDPK ASQHFARVAV
VQHAPSESVD NASMPPVKVE FSLTDYGSKE KLVDFLSRGM TQLQGTRALG SAIEYTIENV
FESAPNPRDL KIVVLMLTGE VPEQQLEEAQ RVILQAKCKG YFFVVLGIGR KVNIKEVYTF
ASEPNDVFFK LVDKSTELNE EPLMRFGRLL PSFVSSENAF YLSPDIRKQC DWFQGDQPTK
NLVKFGHKQV NVPNNVTSSP TSNPVTTTKP VTTTKPVTTT TKPVTTTTKP VTIINQPSVK
PAAAKPAPAK PVAAKPVATK TATVRPPVAV KPATAAKPVA AKPAAVRPPA AAAAKPVATK
PEVPRPQAAK PAATKPATTK PMVKMSREVQ VFEITENSAK LHWERAEPPG PYFYDLTVTS
AHDQSLVLKQ NLTVTDRVIG GLLAGQTYHV AVVCYLRSQV RATYHGSFST KKSQPPPPQP
ARSASSSTIN LMVSTEPLAL TETDICKLPK DEGTCRDFIL KWYYDPNTKS CARFWYGGCG
GNENKFGSQK ECEKVCAPVL AKPGVISVMG T*
speed 0.80 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999998 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:238244963A>GN/A show variant in all transcripts   IGV
HGNC symbol COL6A3
Ensembl transcript ID ENST00000346358
Genbank transcript ID N/A
UniProt peptide P12111
alteration type single base exchange
alteration region CDS
DNA changes c.8180T>C
cDNA.8465T>C
g.78056T>C
AA changes M2727T Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 2727
frameshift no
known variant Reference ID: rs6728818
databasehomozygous (G/G)heterozygousallele carriers
1000G107010482118
ExAC25150-175337617
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.8770
0.1560
(flanking)-1.4540
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased78053wt: 0.2851 / mu: 0.3345 (marginal change - not scored)wt: CACAAAGATGGCCAC
mu: CACAAAGACGGCCAC		 CAAA|gatg
Donor marginally increased78048wt: 0.8509 / mu: 0.8900 (marginal change - not scored)wt: GTGGCCACAAAGATG
mu: GTGGCCACAAAGACG		 GGCC|acaa
Donor marginally increased78051wt: 0.8907 / mu: 0.9485 (marginal change - not scored)wt: GCCACAAAGATGGCC
mu: GCCACAAAGACGGCC		 CACA|aaga
Donor gained780570.52mu: AAGACGGCCACTGTT GACG|gcca
distance from splice site 186
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      2727KPVAAKPVATKMATVRPPVAVKPA
mutated  not conserved    2727KPVAAKPVATKTATVRPPVAVKP
Ptroglodytes  not conserved  ENSPTRG00000013074  2927AAKPVATKTATVRPPVAVRP
Mmulatta  not conserved  ENSMMUG00000014049  2714KPVAAKPVATKTATVRPPVAVKP
Fcatus  no alignment  ENSFCAG00000012720  n/a
Mmusculus  not conserved  ENSMUSG00000048126  2378QPAAAKPVPAKPAVPAQPAPPQPAAAKPVPAKPAVPAQPAAAQPMPAQPVLTKSAAVKPA
Ggallus  not conserved  ENSGALG00000003923  2906KTTTASTTAQTRATERP------
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000077139  3502VVNTHNVNGHVASTYKGIVPTK
Dmelanogaster  no homologue    
Celegans  no alignment  C18H7.1  n/a
Xtropicalis  no alignment  ENSXETG00000031229  n/a
protein features
start (aa)end (aa)featuredetails 
23763177REGIONNonhelical region.lost
26192815DOMAINVWFA 12.lost
28612861CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
28632898COMPBIASThr-rich.might get lost (downstream of altered splice site)
29082983COMPBIASAla-rich.might get lost (downstream of altered splice site)
29562956CONFLICTMissing (in Ref. 1; CAA36267).might get lost (downstream of altered splice site)
29883076DOMAINFibronectin type-III.might get lost (downstream of altered splice site)
29922992CONFLICTS -> L (in Ref. 1; CAA36267).might get lost (downstream of altered splice site)
30373037CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
31103113HELIXmight get lost (downstream of altered splice site)
31123112DISULFIDBy similarity.might get lost (downstream of altered splice site)
31123162DOMAINBPTI/Kunitz inhibitor.might get lost (downstream of altered splice site)
31203122STRANDmight get lost (downstream of altered splice site)
31213121DISULFIDBy similarity.might get lost (downstream of altered splice site)
31223123SITEReactive bond.might get lost (downstream of altered splice site)
31253131STRANDmight get lost (downstream of altered splice site)
31323135TURNmight get lost (downstream of altered splice site)
31363142STRANDmight get lost (downstream of altered splice site)
31373137DISULFIDBy similarity.might get lost (downstream of altered splice site)
31443146STRANDmight get lost (downstream of altered splice site)
31453145DISULFIDBy similarity.might get lost (downstream of altered splice site)
31523154STRANDmight get lost (downstream of altered splice site)
31553162HELIXmight get lost (downstream of altered splice site)
31583158DISULFIDBy similarity.might get lost (downstream of altered splice site)
31623162DISULFIDBy similarity.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 8934 / 8934
position (AA) of stopcodon in wt / mu AA sequence 2978 / 2978
position of stopcodon in wt / mu cDNA 9219 / 9219
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 286 / 286
chromosome 2
strand -1
last intron/exon boundary 9179
theoretical NMD boundary in CDS 8843
length of CDS 8934
coding sequence (CDS) position 8180
cDNA position
(for ins/del: last normal base / first normal base)		 8465
gDNA position
(for ins/del: last normal base / first normal base)		 78056
chromosomal position
(for ins/del: last normal base / first normal base)		 238244963
original gDNA sequence snippet CAAGCCTGTGGCCACAAAGATGGCCACTGTTAGACCCCCAG
altered gDNA sequence snippet CAAGCCTGTGGCCACAAAGACGGCCACTGTTAGACCCCCAG
original cDNA sequence snippet CAAGCCTGTGGCCACAAAGATGGCCACTGTTAGACCCCCAG
altered cDNA sequence snippet CAAGCCTGTGGCCACAAAGACGGCCACTGTTAGACCCCCAG
wildtype AA sequence MRKHRHLPLV AVFCLFLSGF PTTHAQQQQA DVKNGAAADI IFLVDSSWTI GEEHFQLVRE
FLYDVVKSLA VGENDFHFAL VQFNGNPHTE FLLNTYRTKQ EVLSHISNMS YIGGTNQTGK
GLEYIMQSHL TKAAGSRAGD GVPQVIVVLT DGHSKDGLAL PSAELKSADV NVFAIGVEDA
DEGALKEIAS EPLNMHMFNL ENFTSLHDIV GNLVSCVHSS VSPERAGDTE TLKDITAQDS
ADIIFLIDGS NNTGSVNFAV ILDFLVNLLE KLPIGTQQIR VGVVQFSDEP RTMFSLDTYS
TKAQVLGAVK ALGFAGGELA NIGLALDFVV ENHFTRAGGS RVEEGVPQVL VLISAGPSSD
EIRYGVVALK QASVFSFGLG AQAASRAELQ HIATDDNLVF TVPEFRSFGD LQEKLLPYIV
GVAQRHIVLK PPTIVTQVIE VNKRDIVFLV DGSSALGLAN FNAIRDFIAK VIQRLEIGQD
LIQVAVAQYA DTVRPEFYFN THPTKREVIT AVRKMKPLDG SALYTGSALD FVRNNLFTSS
AGYRAAEGIP KLLVLITGGK SLDEISQPAQ ELKRSSIMAF AIGNKGADQA ELEEIAFDSS
LVFIPAEFRA APLQGMLPGL LAPLRTLSGT PEESKRDILF LFDGSANLVG QFPVVRDFLY
KIIDELNVKP EGTRIAVAQY SDDVKVESRF DEHQSKPEIL NLVKRMKIKT GKALNLGYAL
DYAQRYIFVK SAGSRIEDGV LQFLVLLVAG RSSDRVDGPA SNLKQSGVVP FIFQAKNADP
AELEQIVLSP AFILAAESLP KIGDLHPQIV NLLKSVHNGA PAPVSGEKDV VFLLDGSEGV
RSGFPLLKEF VQRVVESLDV GQDRVRVAVV QYSDRTRPEF YLNSYMNKQD VVNAVRQLTL
LGGPTPNTGA ALEFVLRNIL VSSAGSRITE GVPQLLIVLT ADRSGDDVRN PSVVVKRGGA
VPIGIGIGNA DITEMQTISF IPDFAVAIPT FRQLGTVQQV ISERVTQLTR EELSRLQPVL
QPLPSPGVGG KRDVVFLIDG SQSAGPEFQY VRTLIERLVD YLDVGFDTTR VAVIQFSDDP
KVEFLLNAHS SKDEVQNAVQ RLRPKGGRQI NVGNALEYVS RNIFKRPLGS RIEEGVPQFL
VLISSGKSDD EVDDPAVELK QFGVAPFTIA RNADQEELVK ISLSPEYVFS VSTFRELPSL
EQKLLTPITT LTSEQIQKLL ASTRYPPPAV ESDAADIVFL IDSSEGVRPD GFAHIRDFVS
RIVRRLNIGP SKVRVGVVQF SNDVFPEFYL KTYRSQAPVL DAIRRLRLRG GSPLNTGKAL
EFVARNLFVK SAGSRIEDGV PQHLVLVLGG KSQDDVSRFA QVIRSSGIVS LGVGDRNIDR
TELQTITNDP RLVFTVREFR ELPNIEERIM NSFGPSAATP APPGVDTPPP SRPEKKKADI
VFLLDGSINF RRDSFQEVLR FVSEIVDTVY EDGDSIQVGL VQYNSDPTDE FFLKDFSTKR
QIIDAINKVV YKGGRHANTK VGLEHLRVNH FVPEAGSRLD QRVPQIAFVI TGGKSVEDAQ
DVSLALTQRG VKVFAVGVRN IDSEEVGKIA SNSATAFRVG NVQELSELSE QVLETLHDAM
HETLCPGVTD AAKACNLDVI LGFDGSRDQN VFVAQKGFES KVDAILNRIS QMHRVSCSGG
RSPTVRVSVV ANTPSGPVEA FDFDEYQPEM LEKFRNMRSQ HPYVLTEDTL KVYLNKFRQS
SPDSVKVVIH FTDGADGDLA DLHRASENLR QEGVRALILV GLERVVNLER LMHLEFGRGF
MYDRPLRLNL LDLDYELAEQ LDNIAEKACC GVPCKCSGQR GDRGPIGSIG PKGIPGEDGY
RGYPGDEGGP GERGPPGVNG TQGFQGCPGQ RGVKGSRGFP GEKGEVGEIG LDGLDGEDGD
KGLPGSSGEK GNPGRRGDKG PRGEKGERGD VGIRGDPGNP GQDSQERGPK GETGDLGPMG
VPGRDGVPGG PGETGKNGGF GRRGPPGAKG NKGGPGQPGF EGEQGTRGAQ GPAGPAGPPG
LIGEQGISGP RGSGGAAGAP GERGRTGPLG RKGEPGEPGP KGGIGNRGPR GETGDDGRDG
VGSEGRRGKK GERGFPGYPG PKGNPGEPGL NGTTGPKGIR GRRGNSGPPG IVGQKGDPGY
PGPAGPKGNR GDSIDQCALI QSIKDKCPCC YGPLECPVFP TELAFALDTS EGVNQDTFGR
MRDVVLSIVN DLTIAESNCP RGARVAVVTY NNEVTTEIRF ADSKRKSVLL DKIKNLQVAL
TSKQQSLETA MSFVARNTFK RVRNGFLMRK VAVFFSNTPT RASPQLREAV LKLSDAGITP
LFLTRQEDRQ LINALQINNT AVGHALVLPA GRDLTDFLEN VLTCHVCLDI CNIDPSCGFG
SWRPSFRDRR AAGSDVDIDM AFILDSAETT TLFQFNEMKK YIAYLVRQLD MSPDPKASQH
FARVAVVQHA PSESVDNASM PPVKVEFSLT DYGSKEKLVD FLSRGMTQLQ GTRALGSAIE
YTIENVFESA PNPRDLKIVV LMLTGEVPEQ QLEEAQRVIL QAKCKGYFFV VLGIGRKVNI
KEVYTFASEP NDVFFKLVDK STELNEEPLM RFGRLLPSFV SSENAFYLSP DIRKQCDWFQ
GDQPTKNLVK FGHKQVNVPN NVTSSPTSNP VTTTKPVTTT KPVTTTTKPV TTTTKPVTII
NQPSVKPAAA KPAPAKPVAA KPVATKMATV RPPVAVKPAT AAKPVAAKPA AVRPPAAAAA
KPVATKPEVP RPQAAKPAAT KPATTKPMVK MSREVQVFEI TENSAKLHWE RAEPPGPYFY
DLTVTSAHDQ SLVLKQNLTV TDRVIGGLLA GQTYHVAVVC YLRSQVRATY HGSFSTKKSQ
PPPPQPARSA SSSTINLMVS TEPLALTETD ICKLPKDEGT CRDFILKWYY DPNTKSCARF
WYGGCGGNEN KFGSQKECEK VCAPVLAKPG VISVMGT*
mutated AA sequence MRKHRHLPLV AVFCLFLSGF PTTHAQQQQA DVKNGAAADI IFLVDSSWTI GEEHFQLVRE
FLYDVVKSLA VGENDFHFAL VQFNGNPHTE FLLNTYRTKQ EVLSHISNMS YIGGTNQTGK
GLEYIMQSHL TKAAGSRAGD GVPQVIVVLT DGHSKDGLAL PSAELKSADV NVFAIGVEDA
DEGALKEIAS EPLNMHMFNL ENFTSLHDIV GNLVSCVHSS VSPERAGDTE TLKDITAQDS
ADIIFLIDGS NNTGSVNFAV ILDFLVNLLE KLPIGTQQIR VGVVQFSDEP RTMFSLDTYS
TKAQVLGAVK ALGFAGGELA NIGLALDFVV ENHFTRAGGS RVEEGVPQVL VLISAGPSSD
EIRYGVVALK QASVFSFGLG AQAASRAELQ HIATDDNLVF TVPEFRSFGD LQEKLLPYIV
GVAQRHIVLK PPTIVTQVIE VNKRDIVFLV DGSSALGLAN FNAIRDFIAK VIQRLEIGQD
LIQVAVAQYA DTVRPEFYFN THPTKREVIT AVRKMKPLDG SALYTGSALD FVRNNLFTSS
AGYRAAEGIP KLLVLITGGK SLDEISQPAQ ELKRSSIMAF AIGNKGADQA ELEEIAFDSS
LVFIPAEFRA APLQGMLPGL LAPLRTLSGT PEESKRDILF LFDGSANLVG QFPVVRDFLY
KIIDELNVKP EGTRIAVAQY SDDVKVESRF DEHQSKPEIL NLVKRMKIKT GKALNLGYAL
DYAQRYIFVK SAGSRIEDGV LQFLVLLVAG RSSDRVDGPA SNLKQSGVVP FIFQAKNADP
AELEQIVLSP AFILAAESLP KIGDLHPQIV NLLKSVHNGA PAPVSGEKDV VFLLDGSEGV
RSGFPLLKEF VQRVVESLDV GQDRVRVAVV QYSDRTRPEF YLNSYMNKQD VVNAVRQLTL
LGGPTPNTGA ALEFVLRNIL VSSAGSRITE GVPQLLIVLT ADRSGDDVRN PSVVVKRGGA
VPIGIGIGNA DITEMQTISF IPDFAVAIPT FRQLGTVQQV ISERVTQLTR EELSRLQPVL
QPLPSPGVGG KRDVVFLIDG SQSAGPEFQY VRTLIERLVD YLDVGFDTTR VAVIQFSDDP
KVEFLLNAHS SKDEVQNAVQ RLRPKGGRQI NVGNALEYVS RNIFKRPLGS RIEEGVPQFL
VLISSGKSDD EVDDPAVELK QFGVAPFTIA RNADQEELVK ISLSPEYVFS VSTFRELPSL
EQKLLTPITT LTSEQIQKLL ASTRYPPPAV ESDAADIVFL IDSSEGVRPD GFAHIRDFVS
RIVRRLNIGP SKVRVGVVQF SNDVFPEFYL KTYRSQAPVL DAIRRLRLRG GSPLNTGKAL
EFVARNLFVK SAGSRIEDGV PQHLVLVLGG KSQDDVSRFA QVIRSSGIVS LGVGDRNIDR
TELQTITNDP RLVFTVREFR ELPNIEERIM NSFGPSAATP APPGVDTPPP SRPEKKKADI
VFLLDGSINF RRDSFQEVLR FVSEIVDTVY EDGDSIQVGL VQYNSDPTDE FFLKDFSTKR
QIIDAINKVV YKGGRHANTK VGLEHLRVNH FVPEAGSRLD QRVPQIAFVI TGGKSVEDAQ
DVSLALTQRG VKVFAVGVRN IDSEEVGKIA SNSATAFRVG NVQELSELSE QVLETLHDAM
HETLCPGVTD AAKACNLDVI LGFDGSRDQN VFVAQKGFES KVDAILNRIS QMHRVSCSGG
RSPTVRVSVV ANTPSGPVEA FDFDEYQPEM LEKFRNMRSQ HPYVLTEDTL KVYLNKFRQS
SPDSVKVVIH FTDGADGDLA DLHRASENLR QEGVRALILV GLERVVNLER LMHLEFGRGF
MYDRPLRLNL LDLDYELAEQ LDNIAEKACC GVPCKCSGQR GDRGPIGSIG PKGIPGEDGY
RGYPGDEGGP GERGPPGVNG TQGFQGCPGQ RGVKGSRGFP GEKGEVGEIG LDGLDGEDGD
KGLPGSSGEK GNPGRRGDKG PRGEKGERGD VGIRGDPGNP GQDSQERGPK GETGDLGPMG
VPGRDGVPGG PGETGKNGGF GRRGPPGAKG NKGGPGQPGF EGEQGTRGAQ GPAGPAGPPG
LIGEQGISGP RGSGGAAGAP GERGRTGPLG RKGEPGEPGP KGGIGNRGPR GETGDDGRDG
VGSEGRRGKK GERGFPGYPG PKGNPGEPGL NGTTGPKGIR GRRGNSGPPG IVGQKGDPGY
PGPAGPKGNR GDSIDQCALI QSIKDKCPCC YGPLECPVFP TELAFALDTS EGVNQDTFGR
MRDVVLSIVN DLTIAESNCP RGARVAVVTY NNEVTTEIRF ADSKRKSVLL DKIKNLQVAL
TSKQQSLETA MSFVARNTFK RVRNGFLMRK VAVFFSNTPT RASPQLREAV LKLSDAGITP
LFLTRQEDRQ LINALQINNT AVGHALVLPA GRDLTDFLEN VLTCHVCLDI CNIDPSCGFG
SWRPSFRDRR AAGSDVDIDM AFILDSAETT TLFQFNEMKK YIAYLVRQLD MSPDPKASQH
FARVAVVQHA PSESVDNASM PPVKVEFSLT DYGSKEKLVD FLSRGMTQLQ GTRALGSAIE
YTIENVFESA PNPRDLKIVV LMLTGEVPEQ QLEEAQRVIL QAKCKGYFFV VLGIGRKVNI
KEVYTFASEP NDVFFKLVDK STELNEEPLM RFGRLLPSFV SSENAFYLSP DIRKQCDWFQ
GDQPTKNLVK FGHKQVNVPN NVTSSPTSNP VTTTKPVTTT KPVTTTTKPV TTTTKPVTII
NQPSVKPAAA KPAPAKPVAA KPVATKTATV RPPVAVKPAT AAKPVAAKPA AVRPPAAAAA
KPVATKPEVP RPQAAKPAAT KPATTKPMVK MSREVQVFEI TENSAKLHWE RAEPPGPYFY
DLTVTSAHDQ SLVLKQNLTV TDRVIGGLLA GQTYHVAVVC YLRSQVRATY HGSFSTKKSQ
PPPPQPARSA SSSTINLMVS TEPLALTETD ICKLPKDEGT CRDFILKWYY DPNTKSCARF
WYGGCGGNEN KFGSQKECEK VCAPVLAKPG VISVMGT*
speed 1.23 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
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Problems